ClinVar Miner

List of variants in gene EHMT1 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 38
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HGVS dbSNP
NM_024757.5(EHMT1):c.1149G>A (p.Ser383=) rs140345462
NM_024757.5(EHMT1):c.1335G>A (p.Arg445=) rs1564697340
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.1806G>A (p.Glu602=)
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=)
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.240C>T (p.Asn80=) rs752561133
NM_024757.5(EHMT1):c.2493G>C (p.Leu831=) rs1564768555
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.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.3198C>T (p.Asp1066=) rs367688971
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile)
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310
NM_024757.5(EHMT1):c.369C>T (p.Asn123=)
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.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.576G>A (p.Pro192=) rs574514175
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782
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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