ClinVar Miner

List of variants in gene EHMT1 studied for History of neurodevelopmental disorder

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Total variants: 67
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HGVS dbSNP
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768
NM_024757.5(EHMT1):c.1149G>A (p.Ser383=) rs140345462
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198
NM_024757.5(EHMT1):c.1231G>A (p.Gly411Ser)
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.5(EHMT1):c.1335G>A (p.Arg445=) rs1564697340
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.5(EHMT1):c.1444G>A (p.Val482Ile) rs1265023925
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592
NM_024757.5(EHMT1):c.1655G>A (p.Arg552Gln) rs747623277
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373
NM_024757.5(EHMT1):c.1806G>A (p.Glu602=)
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=)
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496
NM_024757.5(EHMT1):c.2115G>A (p.Gly705=) rs1564741472
NM_024757.5(EHMT1):c.211A>G (p.Lys71Glu) rs794727519
NM_024757.5(EHMT1):c.2184C>T (p.Asp728=)
NM_024757.5(EHMT1):c.2280C>T (p.Asp760=) rs372779658
NM_024757.5(EHMT1):c.239A>T (p.Asn80Ile)
NM_024757.5(EHMT1):c.240C>T (p.Asn80=) rs752561133
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750
NM_024757.5(EHMT1):c.2493G>C (p.Leu831=) rs1564768555
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098
NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp)
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.5(EHMT1):c.2767G>A (p.Glu923Lys) rs367643028
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971
NM_024757.5(EHMT1):c.3352C>T (p.Arg1118Cys)
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile)
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) rs560251933
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.5(EHMT1):c.3573C>A (p.Phe1191Leu) rs1564845598
NM_024757.5(EHMT1):c.3583G>A (p.Val1195Ile)
NM_024757.5(EHMT1):c.369C>T (p.Asn123=)
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498
NM_024757.5(EHMT1):c.3774C>T (p.Cys1258=) rs371136319
NM_024757.5(EHMT1):c.3801C>T (p.Ser1267=)
NM_024757.5(EHMT1):c.3843C>T (p.Ala1281=) rs1564847509
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val)
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr) rs141282876
NM_024757.5(EHMT1):c.525A>T (p.Pro175=)
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782
NM_024757.5(EHMT1):c.608C>T (p.Ala203Val) rs1564630797
NM_024757.5(EHMT1):c.69C>G (p.Thr23=)
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser)
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446
NM_024757.5(EHMT1):c.824-3del rs34385417
NM_024757.5(EHMT1):c.824-5_824-3del rs34385417
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320
NM_024757.5(EHMT1):c.933G>A (p.Thr311=)

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