ClinVar Miner

List of variants in gene EHMT1 reported as benign for History of neurodevelopmental disorder

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Gene type:
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Total variants: 18
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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.1162G>A (p.Ala388Thr) rs11137198
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.1368C>T (p.Leu456=) rs45450992
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616
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.3735C>T (p.Arg1245=) rs141797498
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821

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