HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase

Canonical transcript: NM_000859

95 unique variant annotations were identified in 380 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
5-74633081-T-C c.-68T>C - 5_prime_UTR_variant 1/20 - 3
5-74633473-G-C c.-24+348G>C - intron_variant - 1/19 1
5-74633716-G-A c.-24+591G>A - intron_variant - 1/19 2
5-74634473-A-C c.-24+1348A>C - intron_variant - 1/19 3
5-74634473-A-G c.-24+1348A>G - intron_variant - 1/19 3
5-74636484-C-A c.-23-1924C>A - IntronicSNV - 1/19 9
5-74636704-T-C c.-23-1704T>C - IntronicSNV - 1/19 1
5-74636873-G-A c.-23-1535G>A - IntronicSNV - 1/19 1
5-74637213-T-C c.-23-1195T>C - IntronicSNV - 1/19 1
5-74637711-A-T c.-23-697A>T - IntronicSNV - 1/19 15
5-74638413-A-C c.-18A>C - 5-UTRSNV 2/20 - 1
5-74638464-TTT-AAG c.34_36delinsAAG p.Phe12Lys Missense 2/20 - 2
5-74638472-C-A c.42C>A p.Ala14Ala Synonymous 2/20 - 1
5-74638472-C-G c.42C>G p.Ala14Ala Synonymous 2/20 - 1
5-74638472-C-T c.42C>T p.Ala14Ala Synonymous 2/20 - 1
5-74638473-TCC-GAG c.43_45delinsGAG p.Ser15Glu Missense 2/20 - 1
5-74638473-TC-GA c.43_44inv p.Ser15Asp Missense 2/20 - 1
5-74638473-T-G c.43T>G p.Ser15Ala Missense 2/20 - 1
5-74638474-C-G c.44C>G p.Ser15Cys Missense 2/20 - 1
5-74638474-C-T c.44C>T p.Ser15Phe Missense 2/20 - 1
5-74638491-AT-TA c.61_62delinsTA p.Ile21* Nonsense 2/20 - 1
5-74638546-G-C c.116G>C p.Gly39Ala Missense 2/20 - 1
5-74638557-A-G c.127A>G p.Ile43Val Missense 2/20 - 1
5-74638578-TG-AC c.148_149delinsAC p.Cys50Thr Missense 2/20 - 1
5-74638580-T-C c.150T>C p.Cys50Cys Synonymous 2/20 - 2
5-74639178-A-G c.166-500A>G - IntronicSNV - 2/19 1
5-74639259-T-G c.166-419T>G - IntronicSNV - 2/19 8
5-74639680-T-A c.168T>A p.Asp56Glu Missense 3/20 - 1
5-74639680-T-G c.168T>G p.Asp56Glu Missense 3/20 - 1
5-74639706-T-A c.194T>A p.Leu65Gln Missense 3/20 - 1
5-74639722-C-T c.210C>T p.Cys70Cys Synonymous 3/20 - 1
5-74639778-A-G c.266A>G p.Lys89Arg Missense 3/20 - 6
5-74640070-G-C c.278G>C p.Gly93Ala Missense 4/20 - 2
5-74640490-C-T c.365+333C>T - IntronicSNV - 4/19 2
5-74640625-G-A c.365+468G>A - IntronicSNV - 4/19 1
5-74641560-G-A c.450+77G>A - IntronicSNV - 5/19 3
5-74641707-G-A c.450+224G>A - IntronicSNV - 5/19 13
5-74641826-A-C c.450+343A>C - IntronicSNV - 5/19 1
5-74642408-G-A c.451-621G>A - IntronicSNV - 5/19 1
5-74642408-G-T c.451-621G>T - IntronicSNV - 5/19 1
5-74642848-A-T c.451-181A>T - IntronicSNV - 5/19 2
5-74642855-A-T c.451-174A>T - IntronicSNV - 5/19 32
5-74643072-G-T c.494G>T p.Gly165Val Missense 6/20 - 1
5-74643099-T-C c.521T>C p.Val174Ala Missense 6/20 - 3
5-74643105-G-A c.527G>A p.Cys176Tyr Missense 6/20 - 1
5-74643670-T-C c.556+536T>C - IntronicSNV - 6/19 1
5-74644253-C-T c.556+1119C>T - IntronicSNV - 6/19 1
5-74644681-G-T c.557-1186G>T - IntronicSNV - 6/19 4
5-74644706-T-G c.557-1161T>G - IntronicSNV - 6/19 7
5-74644710-G-C c.557-1157G>C - IntronicSNV - 6/19 1
5-74645123-G-A c.557-744G>A - IntronicSNV - 6/19 1
5-74645953-TG-GC c.643_644delinsGC p.Cys215Ala Missense 7/20 - 1
5-74646108-GT-AA c.689_690delinsAA p.Arg230Gln Missense 8/20 - 1
5-74646162-A-G c.743A>G p.Lys248Arg Missense 8/20 - 5
5-74646255-T-A c.780+56T>A - IntronicSNV - 8/19 4
5-74646697-G-A c.864G>A p.Lys288Lys Synonymous 9/20 - 1
5-74646719-A-G c.886A>G p.Asn296Asp Missense 9/20 - 1
5-74646765-A-C c.932A>C p.Tyr311Ser Missense 9/20 - 3
5-74646765-A-G c.932A>G p.Tyr311Cys Missense 9/20 - 1
5-74646878-C-T c.942-15C>T - IntronicSNV - 9/19 2
5-74646925-C-T c.974C>T p.Thr325Ile Missense 10/20 - 1
5-74646960-A-G c.1009A>G p.Ile337Val Missense 10/20 - 1
5-74648496-G-T c.1368+1069G>T - IntronicSNV - 11/19 27
5-74648603-A-T c.1368+1176A>T - IntronicSNV - 11/19 90
5-74649285-C-T c.1369-1043C>T - IntronicSNV - 11/19 1
5-74649649-T-C c.1369-679T>C - IntronicSNV - 11/19 1
5-74650106-C-G c.1369-222C>G - IntronicSNV - 11/19 1
5-74650106-C-T c.1369-222C>T - IntronicSNV - 11/19 1
5-74650932-G-A c.1615G>A p.Gly539Arg Missense 13/20 - 1
5-74651084-A-G c.1722+45A>G - IntronicSNV - 13/19 124
5-74651275-C-G c.1808C>G p.Ala603Gly Missense 14/20 - 1
5-74651864-G-A c.1881-304G>A - IntronicSNV - 14/19 2
5-74651909-G-A c.1881-259G>A - IntronicSNV - 14/19 1
5-74651909-G-C c.1881-259G>C - IntronicSNV - 14/19 1
5-74652059-C-T c.1881-109C>T - IntronicSNV - 14/19 1
5-74652199-A-G c.1912A>G p.Ile638Val Missense 15/20 - 10
5-74652326-T-G c.1986+53T>G - IntronicSNV - 15/19 1
5-74652729-A-G c.1986+456A>G - IntronicSNV - 15/19 1
5-74653378-A-G c.1987-1104A>G - IntronicSNV - 15/19 1
5-74653462-T-G c.1987-1020T>G - IntronicSNV - 15/19 1
5-74654608-T-G c.2113T>G p.Ser705Ala Missense 16/20 - 1
5-74654779-A-T c.2157+127A>T - IntronicSNV - 16/19 1
5-74655130-GGA-TGT c.2293_2295delinsTGT p.Gly765Cys Missense 17/20 - 1
5-74655236-A-G c.2312A>G p.Asn771Ser Missense 18/20 - 1
5-74655451-C-T c.2457+70C>T - IntronicSNV - 18/19 5
5-74655498-T-G c.2457+117T>G - IntronicSNV - 18/19 36
5-74655726-C-T c.2458-84C>T - IntronicSNV - 18/19 58
5-74655801-T-C c.2458-9T>C - IntronicSNV - 18/19 1
5-74655972-T-G c.2612+8T>G - IntronicSNV - 19/19 1
5-74656175-G-A c.*8G>A - 3-UTRSNV 20/20 - 11
5-74656274-G-A c.*107G>A - 3-UTRSNV 20/20 - 1
5-74656539-T-C c.*372T>C - 3-UTRSNV 20/20 - 126
5-74656539-T-G c.*372T>G - 3-UTRSNV 20/20 - 126
5-74657280-T-C c.*1113T>C - 3-UTRSNV 20/20 - 2
5-74657652-C-G c.*1485C>G - 3-UTRSNV 20/20 - 1