COMT catechol-O-methyltransferase

Canonical transcript: NM_000754

162 unique variant annotations were identified in 565 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
22-19929519-G-A c.-92+99G>A - intron_variant - 1/5 1
22-19929551-A-G c.-92+131A>G - intron_variant - 1/5 4
22-19929937-C-A c.-92+517C>A - intron_variant - 1/5 1
22-19929937-C-T c.-92+517C>T - intron_variant - 1/5 1
22-19930002-C-A c.-92+582C>A - intron_variant - 1/5 1
22-19930002-C-G c.-92+582C>G - intron_variant - 1/5 1
22-19930014-G-A c.-92+594G>A - intron_variant - 1/5 1
22-19930014-G-T c.-92+594G>T - intron_variant - 1/5 1
22-19930017-G-C c.-92+597G>C - intron_variant - 1/5 1
22-19930109-T-A c.-92+689T>A - intron_variant - 1/5 24
22-19930109-T-C c.-92+689T>C - intron_variant - 1/5 24
22-19930121-A-G c.-92+701A>G - intron_variant - 1/5 100
22-19930159-C-T c.-92+739C>T - intron_variant - 1/5 4
22-19931407-T-A c.-92+1987T>A - intron_variant - 1/5 27
22-19931407-T-C c.-92+1987T>C - intron_variant - 1/5 27
22-19931668-A-G c.-92+2248A>G - intron_variant - 1/5 19
22-19931976-T-C c.-92+2556T>C - intron_variant - 1/5 4
22-19933048-T-G c.-92+3628T>G - intron_variant - 1/5 4
22-19933778-C-A c.-92+4358C>A - intron_variant - 1/5 2
22-19933778-C-G c.-92+4358C>G - intron_variant - 1/5 2
22-19934025-A-G c.-92+4605A>G - intron_variant - 1/5 4
22-19934025-A-T c.-92+4605A>T - intron_variant - 1/5 4
22-19934051-T-C c.-92+4631T>C - intron_variant - 1/5 11
22-19934850-A-G c.-92+5430A>G - intron_variant - 1/5 1
22-19934983-G-A c.-92+5563G>A - intron_variant - 1/5 1
22-19934999-T-C c.-92+5579T>C - intron_variant - 1/5 5
22-19935148-T-C c.-92+5728T>C - intron_variant - 1/5 1
22-19935494-G-A c.-92+6074G>A - intron_variant - 1/5 1
22-19937533-T-C c.-92+8113T>C - intron_variant - 1/5 15
22-19937533-T-G c.-92+8113T>G - intron_variant - 1/5 15
22-19937638-T-G c.-92+8218T>G - intron_variant - 1/5 21
22-19938709-C-T c.-92+9289C>T - intron_variant - 1/5 1
22-19938759-A-G c.-92+9339A>G - intron_variant - 1/5 1
22-19940333-G-A c.-91-9626G>A - IntronicSNV - 1/5 4
22-19940661-C-G c.-91-8061C>G - intron_variant - 1/5 1
22-19940661-C-T c.-91-8061C>T - intron_variant - 1/5 1
22-19941507-A-G c.-91-7215A>G - intron_variant - 1/5 1
22-19941947-C-T c.-91-6775C>T - intron_variant - 1/5 3
22-19942484-C-T c.-91-6238C>T - intron_variant - 1/5 1
22-19942680-C-A c.-91-6042C>A - intron_variant - 1/5 5
22-19942680-C-G c.-91-6042C>G - intron_variant - 1/5 5
22-19942997-A-G c.-91-5725A>G - intron_variant - 1/5 6
22-19944560-G-A c.-91-4162G>A - intron_variant - 1/5 1
22-19944560-G-C c.-91-4162G>C - intron_variant - 1/5 1
22-19945177-A-G c.-91-3545A>G - intron_variant - 1/5 43
22-19947347-G-C c.-91-1375G>C - intron_variant - 1/5 1
22-19947942-C-A c.-91-780C>A - intron_variant - 1/5 1
22-19948134-A-C c.-91-1825A>C - IntronicSNV - 1/5 1
22-19948134-A-T c.-91-1825A>T - IntronicSNV - 1/5 1
22-19948337-T-C c.-91-385T>C - intron_variant - 1/5 32
22-19948863-G-A c.-1+51G>A - intron_variant - 2/5 12
22-19948863-G-C c.-1+51G>C - intron_variant - 2/5 12
22-19948863-G-T c.-1+51G>T - intron_variant - 2/5 12
22-19949013-C-T c.-1+201C>T - intron_variant - 2/5 16
22-19949213-G-A c.-1+401G>A - intron_variant - 2/5 1
22-19949644-G-C c.1-406G>C - IntronicSNV - 2/5 2
22-19949747-T-C c.1-303T>C - IntronicSNV - 2/5 2
22-19949952-A-G c.1-98A>G - IntronicSNV - 2/5 117
22-19949979-C-G c.-71C>G - IntronicSNV 2/6 - 1
22-19950020-C-T c.1-30C>T - IntronicSNV - 2/5 1
22-19950062-C-T c.13C>T p.Pro5Ser Missense 3/6 - 1
22-19950079-A-C c.30A>C p.Ala10Ala Synonymous 3/6 - 1
22-19950079-A-G c.30A>G p.Ala10Ala Synonymous 3/6 - 1
22-19950079-A-T c.30A>T p.Ala10Ala Synonymous 3/6 - 1
22-19950098-G-C c.49G>C p.Val17Leu Missense 3/6 - 1
22-19950098-G-T c.49G>T p.Val17Leu Missense 3/6 - 1
22-19950116-CT-GC c.67_68delinsGC p.Leu23Ala Missense 3/6 - 1
22-19950149-T-G c.100T>G p.Cys34Gly Missense 3/6 - 1
22-19950150-G-C c.101G>C p.Cys34Ser Missense 3/6 - 4
22-19950158-GG-CT c.109_110delinsCT p.Gly37Leu Missense 3/6 - 1
22-19950159-G-C c.110G>C p.Gly37Ala Missense 3/6 - 1
22-19950161-T-A c.112T>A p.Trp38Arg Missense 3/6 - 1
22-19950161-T-C c.112T>C p.Trp38Arg Missense 3/6 - 1
22-19950161-TG-AA c.112_113delinsAA p.Trp38Lys Missense 3/6 - 1
22-19950161-TG-GC c.112_113delinsGC p.Trp38Ala Missense 3/6 - 1
22-19950161-TGG-GAC c.112_114delinsGAC p.Trp38Asp Missense 3/6 - 1
22-19950161-TG-GT c.112_113delinsGT p.Trp38Val Missense 3/6 - 1
22-19950166-C-A c.117C>A p.Asn39Lys Missense 3/6 - 1
22-19950166-C-G c.117C>G p.Asn39Lys Missense 3/6 - 1
22-19950166-C-T c.117C>T p.Asn39Asn Synonymous 3/6 - 1
22-19950189-A-G c.140A>G p.His47Arg Missense 3/6 - 3
22-19950200-A-G c.151A>G p.Met51Val Missense 3/6 - 1
22-19950200-AT-GC c.151_152delinsGC p.Met51Ala Missense 3/6 - 2
22-19950211-C-A c.162C>A p.Thr54Thr Synonymous 3/6 - 1
22-19950211-C-G c.162C>G p.Thr54Thr Synonymous 3/6 - 1
22-19950211-C-T c.162C>T p.Thr54Thr Synonymous 3/6 - 1
22-19950235-C-T c.186C>T p.His62His Synonymous 3/6 - 162
22-19950248-G-A c.199G>A p.Ala67Thr Missense 3/6 - 1
22-19950248-GCG-TGT c.199_201delinsTGT p.Ala67Cys Missense 3/6 - 1
22-19950263-G-A c.214G>A p.Ala72Thr Missense 3/6 - 28
22-19950263-G-T c.214G>T p.Ala72Ser Missense 3/6 - 41
22-19950268-G-A c.219G>A p.Gln73Gln Synonymous 3/6 - 5
22-19950281-G-T c.232G>T p.Ala78Ser Missense 3/6 - 1
22-19950282-C-A c.233C>A p.Ala78Asp Missense 3/6 - 1
22-19950314-GC-TG c.265_266delinsTG p.Ala89Cys Missense 3/6 - 1
22-19950323-G-A c.274G>A p.Val92Met Missense 3/6 - 1
22-19950327-G-C c.278G>C p.Gly93Ala Missense 3/6 - 4
22-19950347-C-T c.289+9C>T - IntronicSNV - 3/5 2
22-19950428-A-G c.289+90A>G - IntronicSNV - 3/5 22
22-19950763-T-G c.290-326T>G - IntronicSNV - 3/5 4
22-19951101-A-G c.302A>G p.Asp101Gly Missense 4/6 - 1
22-19951103-G-A c.304G>A p.Ala102Thr Missense 4/6 - 6
22-19951128-C-T c.329C>T p.Ser110Phe Missense 4/6 - 1
22-19951173-G-A c.374G>A p.Arg125His Missense 4/6 - 1
22-19951174-C-T c.375C>T p.Arg125Arg Synonymous 4/6 - 1
22-19951182-G-A c.383G>A p.Arg128His Missense 4/6 - 1
22-19951201-G-A c.402G>A p.Ala134Ala Synonymous 4/6 - 2
22-19951205-CT-TA c.406_407delinsTA p.Leu136Tyr Missense 4/6 - 1
22-19951207-C-G c.408C>G p.Leu136Leu Synonymous 4/6 - 162
22-19951207-C-T c.408C>T p.Leu136Leu Synonymous 4/6 - 162
22-19951223-A-G c.424A>G p.Asn142Asp Missense 4/6 - 1
22-19951230-A-C c.431A>C p.Asp144Ala Missense 4/6 - 1
22-19951230-A-G c.431A>G p.Asp144Gly Missense 4/6 - 1
22-19951232-TG-GC c.433_434delinsGC p.Cys145Ala Missense 4/6 - 1
22-19951236-C-T c.437C>T p.Ala146Val Missense 4/6 - 4
22-19951237-C-T c.438C>T p.Ala146Ala Synonymous 4/6 - 3
22-19951238-G-A c.439G>A p.Ala147Thr Missense 4/6 - 1
22-19951271-G-A c.472G>A p.Val158Met Missense 4/6 - 1716
22-19951273-G-A c.474G>A p.Val158Val Synonymous 4/6 - 17
22-19951273-G-C c.474G>C p.Val158Val Synonymous 4/6 - 17
22-19951273-G-T c.474G>T p.Val158Val Synonymous 4/6 - 17
22-19951274-GAAG-G c.475_477del p.Lys159del InFrameDeletion 4/6 - 1
22-19951721-AT-TG c.514_515delinsTG p.Ile172Cys Missense 5/6 - 1
22-19951804-G-A c.597G>A p.Pro199Pro Synonymous 5/6 - 9
22-19951804-G-C c.597G>C p.Pro199Pro Synonymous 5/6 - 1
22-19951804-G-T c.597G>T p.Pro199Pro Synonymous 5/6 - 1
22-19951816-C-T c.609C>T p.Leu203Leu Synonymous 5/6 - 1
22-19951897-G-A c.615+75G>A - IntronicSNV - 5/5 7
22-19951897-G-C c.615+75G>C - IntronicSNV - 5/5 7
22-19952132-C-G c.615+310C>G - IntronicSNV - 5/5 32
22-19952132-C-T c.615+310C>T - IntronicSNV - 5/5 33
22-19952501-C-T c.615+679C>T - IntronicSNV - 5/5 1
22-19952561-G-A c.615+739G>A - IntronicSNV - 5/5 28
22-19953059-T-C c.615+1237T>C - IntronicSNV - 5/5 2
22-19953176-C-A c.615+1354C>A - IntronicSNV - 5/5 24
22-19953176-C-T c.615+1354C>T - IntronicSNV - 5/5 24
22-19953832-A-G c.615+2010A>G - IntronicSNV - 5/5 12
22-19954458-C-T c.616-1601C>T - IntronicSNV - 5/5 17
22-19954847-G-A c.616-1212G>A - IntronicSNV - 5/5 2
22-19954847-G-T c.616-1212G>T - IntronicSNV - 5/5 2
22-19954930-C-CC c.616-1129dup - IntronicInsertion - 5/5 1
22-19955157-G-A c.616-902G>A - IntronicSNV - 5/5 3
22-19955157-G-T c.616-902G>T - IntronicSNV - 5/5 3
22-19955375-T-C c.616-684T>C - IntronicSNV - 5/5 1
22-19955375-T-G c.616-684T>G - IntronicSNV - 5/5 1
22-19955692-C-A c.616-367C>A - IntronicSNV - 5/5 42
22-19955692-C-T c.616-367C>T - IntronicSNV - 5/5 42
22-19956074-C-T c.631C>T p.Arg211Trp Missense 6/6 - 1
22-19956078-A-G c.635A>G p.Lys212Arg Missense 6/6 - 1
22-19956081-GG-AC c.638_639delinsAC p.Gly213Asp Missense 6/6 - 1
22-19956095-GC-TG c.652_653delinsTG p.Ala218Cys Missense 6/6 - 13
22-19956110-T-A c.667T>A p.Cys223Ser Missense 6/6 - 1
22-19956111-G-C c.668G>C p.Cys223Ser Missense 6/6 - 1
22-19956120-C-T c.677C>T p.Ala226Val Missense 6/6 - 1
22-19956161-G-A c.718G>A p.Glu240Lys Missense 6/6 - 1
22-19956164-T-A c.721T>A p.Cys241Ser Missense 6/6 - 1
22-19956165-G-C c.722G>C p.Cys241Ser Missense 6/6 - 1
22-19956210-G-A c.767G>A p.Gly256Asp Missense 6/6 - 2
22-19956553-C-G c.*294C>G - 3-UTRSNV 6/6 - 3
22-19956781-G-A c.*522G>A - 3-UTRSNV 6/6 - 116
22-19957023-C-G c.*764C>G - 3-UTRSNV 6/6 - 16
22-19957023-C-T c.*764C>T - 3-UTRSNV 6/6 - 16