CLIC2

CLIC2 chloride intracellular channel 2

Annotation transcript: NM_001289.6

227 unique variant annotations were identified in 165 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
X-154507173-T-G c.*19A>C - 3-UTRSNV 6/6 - 8
X-154507198-C-G c.738G>C p.K246N Missense 6/6 - 2
X-154507206-T-C c.730A>G p.K244E Missense 6/6 - 1
X-154507208-G-A c.728C>T p.A243V Missense 6/6 - 1
X-154507218-C-T c.718G>A p.A240T Missense 6/6 - 1
X-154507219-G-A c.717C>T p.Y239= Synonymous 6/6 - 4
X-154507232-A-G c.704T>C p.I235T Missense 6/6 - 1
X-154507247-G-A c.689C>T p.P230L Missense 6/6 - 4
X-154507248-G-T c.688C>A p.P230T Missense 6/6 - 1
X-154507249-A-G c.687T>C p.C229= Synonymous 6/6 - 1
X-154507252-C-T c.684G>A p.T228= Synonymous 6/6 - 1
X-154507253-G-A c.683C>T p.T228M Missense 6/6 - 1
X-154507259-G-C c.677C>G p.T226S Missense 6/6 - 1
X-154507271-C-T c.665G>A p.R222H Missense 6/6 - 1
X-154507272-G-A c.664C>T p.R222C Missense 6/6 - 1
X-154507272-G-C c.664C>G p.R222G Missense 6/6 - 1
X-154507273-G-A c.663C>T p.A221= Synonymous 6/6 - 2
X-154507274-G-A c.662C>T p.A221V Missense 6/6 - 2
X-154507274-G-C c.662C>G p.A221G Missense 6/6 - 1
X-154507277-T-C c.659A>G p.Y220C Missense 6/6 - 1
X-154507281-C-A c.655G>T p.A219S Missense 6/6 - 1
X-154507281-C-T c.655G>A p.A219T Missense 6/6 - 1
X-154507286-T-C c.650A>G p.H217R Missense 6/6 - 1
X-154507295-C-T c.641G>A p.R214H Missense 6/6 - 4
X-154507296-G-A c.640C>T p.R214C Missense 6/6 - 1
X-154507305-C-G c.631G>C p.G211R Missense 6/6 - 1
X-154507305-C-T c.631G>A p.G211R Missense 6/6 - 1
X-154507308-A-T c.628T>A p.S210T Missense 6/6 - 1
X-154507311-A-T c.625T>A p.F209I Missense 6/6 - 1
X-154507326-C-G c.610G>C p.D204H Missense 6/6 - 1
X-154507335-G-A c.601C>T p.R201C Missense 6/6 - 9
X-154507346-G-A c.590C>T p.A197V Missense 6/6 - 1
X-154507926-G-A c.582+512C>T - IntronicSNV - 5/5 1
X-154508317-CATGATGATGATGATAATGACAAAGCTATAATATAATAATACCGCACTGGAAGGTCACTA-C c.582+63_582+121del - IntronicDeletion - 5/5 1
X-154508438-T-C c.582A>G p.K194= Synonymous 5/6 - 1
X-154508447-G-C c.573C>G p.N191K Missense 5/6 - 1
X-154508447-G-T c.573C>A p.N191K Missense 5/6 - 1
X-154508451-AG-TC c.568_569delinsGA p.L190E Missense 5/6 - 1
X-154508453-C-T c.567G>A p.K189= Synonymous 5/6 - 1
X-154508458-G-A c.562C>T p.P188S Missense 5/6 - 1
X-154508468-A-G c.552T>C p.C184= Synonymous 5/6 - 1
X-154508470-A-G c.550T>C p.C184R Missense 5/6 - 1
X-154508475-G-A c.545C>T p.A182V Missense 5/6 - 1
X-154508497-C-A c.523G>T p.D175Y Missense 5/6 - 4
X-154508501-G-A c.519C>T p.F173= Synonymous 5/6 - 1
X-154508502-A-G c.518T>C p.F173S Missense 5/6 - 1
X-154508501-G-C c.519C>G p.F173L Missense 5/6 - 1
X-154508501-G-T c.519C>A p.F173L Missense 5/6 - 1
X-154508503-A-G c.517T>C p.F173L Missense 5/6 - 1
X-154508514-G-A c.506C>T p.S169F Missense 5/6 - 6
X-154508518-C-T c.502G>A p.V168I Missense 5/6 - 2
X-154508522-G-T c.498C>A p.P166= Synonymous 5/6 - 2
X-154508523-G-A c.497C>T p.P166L Missense 5/6 - 2
X-154508523-GG-AA c.496_497delinsTT p.P166F Missense 5/6 - 3
X-154508524-G-A c.496C>T p.P166S Missense 5/6 - 2
X-154508527-C-A c.493G>T p.E165* Nonsense 5/6 - 2
X-154508529-T-A c.491A>T p.E164V Missense 5/6 - 1
X-154508539-C-A c.481G>T p.D161Y Missense 5/6 - 1
X-154508539-C-G c.481G>C p.D161H Missense 5/6 - 1
X-154508542-G-C c.478C>G p.P160A Missense 5/6 - 3
X-154508545-C-T c.475G>A p.D159N Missense 5/6 - 2
X-154508551-C-T c.469G>A p.E157K Missense 5/6 - 3
X-154508553-T-G c.467A>C p.D156A Missense 5/6 - 1
X-154508554-C-T c.466G>A p.D156N Missense 5/6 - 2
X-154508555-C-A c.465G>T p.L155= Synonymous 5/6 - 1
X-154508555-C-G c.465G>C p.L155= Synonymous 5/6 - 1
X-154508555-C-T c.465G>A p.L155= Synonymous 5/6 - 1
X-154508557-G-A c.463C>T p.L155= Synonymous 5/6 - 1
X-154508557-G-T c.463C>A p.L155M Missense 5/6 - 1
X-154508559-A-G c.461T>C p.L154P Missense 5/6 - 1
X-154508563-G-A c.457C>T p.P153S Missense 5/6 - 2
X-154508564-G-A c.456C>T p.T152= Synonymous 5/6 - 2
X-154508571-A-C c.449T>G p.L150* Nonsense 5/6 - 3
X-154508571-A-T c.449T>A p.L150* Nonsense 5/6 - 2
X-154508586-C-T c.434G>A p.R145H Missense 5/6 - 3
X-154508587-G-A c.433C>T p.R145C Missense 5/6 - 2
X-154508596-C-A c.424G>T p.E142* Nonsense 5/6 - 3
X-154508596-C-T c.424G>A p.E142K Missense 5/6 - 1
X-154508602-G-A c.418C>T p.L140F Missense 5/6 - 4
X-154508605-G-A c.415C>T p.L139= Synonymous 5/6 - 4
X-154508607-GA-AG c.412_413delinsCT p.S138L Missense 5/6 - 1
X-154508614-C-T c.406G>A p.E136K Missense 5/6 - 2
X-154509252-C-T c.399G>A p.K133= Synonymous 4/6 - 1
X-154509257-T-G c.394A>C p.N132H Missense 4/6 - 1
X-154509266-T-C c.385A>G p.K129E Missense 4/6 - 1
X-154509270-TG-CA c.380_381inv p.T127M Missense 4/6 - 1
X-154509277-T-C c.374A>G p.K125R Missense 4/6 - 1
X-154509291-A-C c.360T>G p.F120L Missense 4/6 - 1
X-154509294-C-T c.357G>A p.K119= Synonymous 4/6 - 1
X-154509298-G-A c.353C>T p.A118V Missense 4/6 - 1
X-154509299-C-A c.352G>T p.A118S Missense 4/6 - 1
X-154509299-C-T c.352G>A p.A118T Missense 4/6 - 2
X-154509303-G-A c.348C>T p.L116= Synonymous 4/6 - 1
X-154509303-G-C c.348C>G p.L116= Synonymous 4/6 - 1
X-154509303-G-T c.348C>A p.L116= Synonymous 4/6 - 1
X-154509305-G-C c.346C>G p.L116V Missense 4/6 - 2
X-154509306-G-C c.345C>G p.N115K Missense 4/6 - 1
X-154509306-G-T c.345C>A p.N115K Missense 4/6 - 1
X-154509309-A-G c.342T>C p.C114= Synonymous 4/6 - 1
X-154509325-G-C c.326C>G p.S109C Missense 4/6 - 1
X-154509325-G-T c.326C>A p.S109Y Missense 4/6 - 1
X-154509327-C-A c.324G>T p.E108D Missense 4/6 - 1
X-154509327-C-G c.324G>C p.E108D Missense 4/6 - 1
X-154509328-T-A c.323A>T p.E108V Missense 4/6 - 1
X-154509329-C-T c.322G>A p.E108K Missense 4/6 - 1
X-154509330-C-T c.321G>A p.K107= Synonymous 4/6 - 1
X-154509332-T-G c.319A>C p.K107Q Missense 4/6 - 1
X-154509341-G-A c.310C>T p.P104S Missense 4/6 - 1
X-154509341-G-C c.310C>G p.P104A Missense 4/6 - 1
X-154509346-A-G c.305T>C p.L102P Missense 4/6 - 1
X-154509348-G-C c.303C>G p.H101Q Missense 4/6 - 16
X-154509348-G-T c.303C>A p.H101Q Missense 4/6 - 10
X-154509352-G-A c.299C>T p.P100L Missense 4/6 - 1
X-154509352-G-T c.299C>A p.P100H Missense 4/6 - 1
X-154519088-A-T c.293+9010T>A - IntronicSNV - 3/5 1
X-154519110-GA-G c.293+8988del - IntronicDeletion - 3/5 1
X-154520877-C-T c.293+7221G>A - IntronicSNV - 3/5 1
X-154521614-G-A c.293+6484C>T - IntronicSNV - 3/5 1
X-154521614-G-T c.293+6484C>A - IntronicSNV - 3/5 1
X-154521993-A-G c.293+6105T>C - IntronicSNV - 3/5 1
X-154522010-A-C c.293+6088T>G - IntronicSNV - 3/5 1
X-154522010-A-G c.293+6088T>C - IntronicSNV - 3/5 1
X-154522010-A-T c.293+6088T>A - IntronicSNV - 3/5 1
X-154522512-G-T c.293+5586C>A - IntronicSNV - 3/5 1
X-154527503-G-A c.293+595C>T - IntronicSNV - 3/5 1
X-154527619-G-C c.293+479C>G - IntronicSNV - 3/5 1
X-154528023-G-A c.293+75C>T - IntronicSNV - 3/5 1
X-154528059-G-T c.293+39C>A - IntronicSNV - 3/5 1
X-154528097-C-T c.293+1G>A - IntronicSNV - 3/5 1
X-154528102-G-C c.289C>G p.P97A Missense 3/6 - 1
X-154528107-G-A c.284C>T p.A95V Missense 3/6 - 1
X-154528112-G-T c.279C>A p.T93= Synonymous 3/6 - 3
X-154528113-G-C c.278C>G p.T93S Missense 3/6 - 2
X-154528114-T-C c.277A>G p.T93A Missense 3/6 - 1
X-154528114-T-G c.277A>C p.T93P Missense 3/6 - 1
X-154528116-T-G c.275A>C p.Q92P Missense 3/6 - 1
X-154528117-G-T c.274C>A p.Q92K Missense 3/6 - 1
X-154528125-A-G c.266T>C p.F89S Missense 3/6 - 1
X-154528132-C-G c.259G>C p.E87Q Missense 3/6 - 1
X-154528133-A-C c.258T>G p.I86M Missense 3/6 - 1
X-154528136-T-A c.255A>T p.K85N Missense 3/6 - 1
X-154528136-T-C c.255A>G p.K85= Synonymous 3/6 - 2
X-154528137-T-G c.254A>C p.K85T Missense 3/6 - 1
X-154528150-T-A c.241A>T p.T81S Missense 3/6 - 1
X-154528171-C-T c.220G>A p.V74M Missense 3/6 - 3
X-154528172-C-A c.219G>T p.L73= Synonymous 3/6 - 1
X-154528172-C-G c.219G>C p.L73= Synonymous 3/6 - 1
X-154528172-C-T c.219G>A p.L73= Synonymous 3/6 - 1
X-154528174-G-A c.217C>T p.L73= Synonymous 3/6 - 1
X-154528179-G-A c.212C>T p.P71L Missense 3/6 - 10
X-154528180-G-A c.211C>T p.P71S Missense 3/6 - 6
X-154528182-G-T c.209C>A p.P70H Missense 3/6 - 2
X-154528187-G-A c.204C>T p.T68= Synonymous 3/6 - 1
X-154528195-G-A c.196C>T p.P66S Missense 3/6 - 1
X-154528201-A-T c.190T>A p.L64I Missense 3/6 - 1
X-154528203-T-C c.188A>G p.D63G Missense 3/6 - 2
X-154528208-T-A c.183A>T p.L61= Synonymous 3/6 - 1
X-154528208-T-C c.183A>G p.L61= Synonymous 3/6 - 1
X-154528208-T-G c.183A>C p.L61= Synonymous 3/6 - 1
X-154528210-G-A c.181C>T p.L61= Synonymous 3/6 - 1
X-154528209-A-G c.182T>C p.L61P Missense 3/6 - 2
X-154528212-T-C c.179A>G p.E60G Missense 3/6 - 1
X-154528213-C-A c.178G>T p.E60* Nonsense 3/6 - 1
X-154528216-C-A c.175G>T p.E59* Nonsense 3/6 - 2
X-154528219-G-A c.172C>T p.P58S Missense 3/6 - 1
X-154528226-TATGATTATTAAAAATAAGCAGAGTTAGGTCTCTAGATAAAGTACACATTAAATAAACAC-T c.168-61_168-3del - SpliceDonorDeletion - 2/5 1
X-154528321-G-C c.167+28C>G - IntronicSNV - 2/5 1
X-154528350-T-C c.166A>G p.R56G Missense 2/6 - 1
X-154528359-C-G c.157G>C p.D53H Missense 2/6 - 1
X-154528360-AAC-CAT c.154_156delinsATG p.V52M Missense 2/6 - 1
X-154528360-A-G c.156T>C p.V52= Synonymous 2/6 - 1
X-154528369-C-A c.147G>T p.V49= Synonymous 2/6 - 2
X-154528369-C-G c.147G>C p.V49= Synonymous 2/6 - 2
X-154528369-C-T c.147G>A p.V49= Synonymous 2/6 - 2
X-154528379-T-C c.137A>G p.K46R Missense 2/6 - 1
X-154528383-C-T c.133G>A p.V45I Missense 2/6 - 1
X-154528384-T-C c.132A>G p.G44= Synonymous 2/6 - 1
X-154528399-G-A c.117C>T p.I39= Synonymous 2/6 - 4
X-154528402-C-A c.114G>T p.M38I Missense 2/6 - 1
X-154528402-C-G c.114G>C p.M38I Missense 2/6 - 1
X-154528402-C-T c.114G>A p.M38I Missense 2/6 - 1
X-154528403-A-C c.113T>G p.M38R Missense 2/6 - 2
X-154528405-G-A c.111C>T p.F37= Synonymous 2/6 - 3
X-154528409-A-C c.107T>G p.L36R Missense 2/6 - 1
X-154528409-A-G c.107T>C p.L36P Missense 2/6 - 1
X-154528413-G-C c.103C>G p.R35G Missense 2/6 - 3
X-154528420-A-G c.96T>C p.F32= Synonymous 2/6 - 1
X-154528421-A-T c.95T>A p.F32Y Missense 2/6 - 1
X-154528422-A-G c.94T>C p.F32L Missense 2/6 - 1
X-154528423-G-A c.93C>T p.P31= Synonymous 2/6 - 1
X-154528424-G-A c.92C>T p.P31L Missense 2/6 - 1
X-154528425-G-A c.91C>T p.P31S Missense 2/6 - 1
X-154528425-G-T c.91C>A p.P31T Missense 2/6 - 2
X-154528436-A-T c.80T>A p.I27N Missense 2/6 - 1
X-154528438-A-C c.78T>G p.S26R Missense 2/6 - 1
X-154528438-A-G c.78T>C p.S26= Synonymous 2/6 - 3
X-154528439-C-T c.77G>A p.S26N Missense 2/6 - 1
X-154528445-C-G c.71G>C p.G24A Missense 2/6 - 1
X-154528445-C-T c.71G>A p.G24E Missense 2/6 - 1
X-154528448-T-A c.68A>T p.D23V Missense 2/6 - 1
X-154528448-TC-CA c.67_68delinsTG p.D23C Missense 2/6 - 1
X-154528449-C-T c.67G>A p.D23N Missense 2/6 - 1
X-154528455-C-G c.61G>C p.G21R Missense 2/6 - 1
X-154528455-C-T c.61G>A p.G21R Missense 2/6 - 1
X-154528457-GC-AA c.58_59delinsTT p.A20F Missense 2/6 - 3
X-154528457-GC-CA c.58_59delinsTG p.A20C Missense 2/6 - 3
X-154528457-G-T c.59C>A p.A20D Missense 2/6 - 6
X-154528458-C-G c.58G>C p.A20P Missense 2/6 - 1
X-154528458-C-T c.58G>A p.A20T Missense 2/6 - 7
X-154549260-C-T c.57+14420G>A - IntronicSNV - 1/5 1
X-154556963-TC-T c.57+6717del - IntronicDeletion - 1/5 1
X-154563287-A-G c.57+393T>C - IntronicSNV - 1/5 1
X-154563680-C-T c.57G>A p.K19= Synonymous 1/6 - 3
X-154563690-A-G c.47T>C p.L16P Missense 1/6 - 1
X-154563691-G-T c.46C>A p.L16I Missense 1/6 - 1
X-154563699-T-G c.38A>C p.E13A Missense 1/6 - 1
X-154563709-C-A c.28G>T p.V10L Missense 1/6 - 2
X-154563709-C-G c.28G>C p.V10L Missense 1/6 - 2
X-154563717-C-T c.20G>A p.G7D Missense 1/6 - 1
X-154563718-C-T c.19G>A p.G7S Missense 1/6 - 4
X-154563722-C-T c.15G>A p.R5= Synonymous 1/6 - 1
X-154563724-G-A c.13C>T p.R5W Missense 1/6 - 2
X-154563725-C-A c.12G>T p.L4= Synonymous 1/6 - 1
X-154563727-G-A c.10C>T p.L4= Synonymous 1/6 - 1
X-154563727-G-T c.10C>A p.L4M Missense 1/6 - 1
X-154563728-G-A c.9C>T p.G3= Synonymous 1/6 - 2
X-154563730-C-G c.7G>C p.G3R Missense 1/6 - 2