ClinVar Miner

List of variants in gene EHMT1 reported as likely benign for Kleefstra syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NM_024757.4(EHMT1):c.*1018T>G rs542383104
NM_024757.4(EHMT1):c.*1025T>G rs562175291
NM_024757.4(EHMT1):c.*1025dupT rs201292825
NM_024757.4(EHMT1):c.*1179G>T rs533483370
NM_024757.4(EHMT1):c.*226G>A rs571061996
NM_024757.4(EHMT1):c.*667C>T rs79878790
NM_024757.4(EHMT1):c.*971dupT rs563102749
NM_024757.4(EHMT1):c.102C>T (p.Ala34=) rs202208554
NM_024757.4(EHMT1):c.1133C>T (p.Ser378Phe) rs780462689
NM_024757.4(EHMT1):c.1149G>A (p.Ser383=) rs140345462
NM_024757.4(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198
NM_024757.4(EHMT1):c.1176C>T (p.Asp392=) rs373083497
NM_024757.4(EHMT1):c.1249-9G>T rs73669157
NM_024757.4(EHMT1):c.128_129delCAinsGT (p.Ala43Gly) rs386739686
NM_024757.4(EHMT1):c.1369+9C>T rs146125583
NM_024757.4(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707
NM_024757.4(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.4(EHMT1):c.1950C>T (p.Thr650=) rs199839806
NM_024757.4(EHMT1):c.21+10G>C rs1040872282
NM_024757.4(EHMT1):c.2127C>T (p.Pro709=) rs150501660
NM_024757.4(EHMT1):c.2181C>T (p.Leu727=) rs377163037
NM_024757.4(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404
NM_024757.4(EHMT1):c.2280C>T (p.Asp760=) rs372779658
NM_024757.4(EHMT1):c.240C>T (p.Asn80=) rs752561133
NM_024757.4(EHMT1):c.251G>A (p.Gly84Asp) rs142887098
NM_024757.4(EHMT1):c.2595C>T (p.Asp865=) rs780742937
NM_024757.4(EHMT1):c.2616A>G (p.Gly872=) rs779277999
NM_024757.4(EHMT1):c.2656G>A (p.Val886Met) rs146269774
NM_024757.4(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.4(EHMT1):c.271A>T (p.Ile91Leu) rs144949902
NM_024757.4(EHMT1):c.2767G>A (p.Glu923Lys) rs367643028
NM_024757.4(EHMT1):c.276G>A (p.Ala92=) rs376810828
NM_024757.4(EHMT1):c.2799C>T (p.His933=) rs573774002
NM_024757.4(EHMT1):c.2808C>T (p.Asn936=) rs553009659
NM_024757.4(EHMT1):c.2865C>T (p.Val955=) rs749354858
NM_024757.4(EHMT1):c.2922G>A (p.Thr974=) rs748716122
NM_024757.4(EHMT1):c.2937G>A (p.Ala979=) rs564664932
NM_024757.4(EHMT1):c.2994G>C (p.Ser998=) rs778296046
NM_024757.4(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.4(EHMT1):c.3059G>A (p.Arg1020His) rs376628665
NM_024757.4(EHMT1):c.3123C>G (p.Val1041=) rs141527497
NM_024757.4(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.4(EHMT1):c.3180+10G>T rs113676865
NM_024757.4(EHMT1):c.3181-8C>T rs1554896993
NM_024757.4(EHMT1):c.3183C>T (p.Tyr1061=) rs1554896995
NM_024757.4(EHMT1):c.324C>T (p.His108=) rs574402576
NM_024757.4(EHMT1):c.3321C>T (p.His1107=) rs781426172
NM_024757.4(EHMT1):c.33G>A (p.Ala11=) rs754740754
NM_024757.4(EHMT1):c.342T>C (p.Phe114=) rs1554846429
NM_024757.4(EHMT1):c.3462-14C>T rs186747522
NM_024757.4(EHMT1):c.3522C>T (p.Leu1174=) rs748135858
NM_024757.4(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.4(EHMT1):c.363C>T (p.Gly121=) rs144352877
NM_024757.4(EHMT1):c.3716+4C>T rs375271697
NM_024757.4(EHMT1):c.3716+9C>T rs777993644
NM_024757.4(EHMT1):c.3726T>C (p.Tyr1242=) rs1160822224
NM_024757.4(EHMT1):c.3735C>T (p.Arg1245=) rs141797498
NM_024757.4(EHMT1):c.3747C>T (p.Ile1249=) rs1554908854
NM_024757.4(EHMT1):c.3774C>T (p.Cys1258=) rs371136319
NM_024757.4(EHMT1):c.390G>T (p.Pro130=) rs144323841
NM_024757.4(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.4(EHMT1):c.438G>A (p.Ser146=) rs151008340
NM_024757.4(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.4(EHMT1):c.498C>T (p.Ser166=) rs146037252
NM_024757.4(EHMT1):c.526C>T (p.Pro176Ser) rs34704821
NM_024757.4(EHMT1):c.576G>A (p.Pro192=) rs574514175
NM_024757.4(EHMT1):c.624G>A (p.Pro208=) rs759629407
NM_024757.4(EHMT1):c.631G>A (p.Val211Ile) rs201528122
NM_024757.4(EHMT1):c.633C>T (p.Val211=) rs751159756
NM_024757.4(EHMT1):c.737G>A (p.Arg246Gln) rs144871446
NM_024757.4(EHMT1):c.85+9G>A rs566701810
NM_024757.4(EHMT1):c.900T>C (p.Pro300=) rs1554858785
NM_024757.4(EHMT1):c.905A>G (p.Lys302Arg) rs565065320

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