ClinVar Miner

List of variants in gene EHMT1, LOC130003148 studied for Kleefstra syndrome 1

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1636G>A (p.Val546Met) rs755711930 0.00007
NM_024757.5(EHMT1):c.1614C>A (p.Asn538Lys) rs752162672 0.00004
NM_024757.5(EHMT1):c.1567C>T (p.Arg523Trp) rs562496442 0.00001
NM_024757.5(EHMT1):c.1581G>A (p.Pro527=) rs765571288 0.00001
NM_024757.5(EHMT1):c.1583A>G (p.Lys528Arg) rs752777139 0.00001
NM_024757.5(EHMT1):c.1604T>G (p.Leu535Arg) rs1172239495 0.00001
NM_024757.5(EHMT1):c.1538G>A (p.Gly513Asp) rs2136356681
NM_024757.5(EHMT1):c.1540C>G (p.Leu514Val)
NM_024757.5(EHMT1):c.1540C>T (p.Leu514Phe)
NM_024757.5(EHMT1):c.1544A>G (p.Gln515Arg) rs2136356874
NM_024757.5(EHMT1):c.1546G>A (p.Glu516Lys) rs768537801
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg) rs1287556019
NM_024757.5(EHMT1):c.1557C>G (p.Leu519=) rs1376714202
NM_024757.5(EHMT1):c.1557C>T (p.Leu519=)
NM_024757.5(EHMT1):c.1570A>T (p.Met524Leu) rs2136357245
NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter) rs1554871138
NM_024757.5(EHMT1):c.1589G>A (p.Arg530Gln)
NM_024757.5(EHMT1):c.1590_1607dup (p.Glu531_Ala536dup) rs1949928538
NM_024757.5(EHMT1):c.1596C>T (p.Ile532=)
NM_024757.5(EHMT1):c.1597del (p.Thr533fs) rs1949929359
NM_024757.5(EHMT1):c.1600A>G (p.Thr534Ala)
NM_024757.5(EHMT1):c.1601C>T (p.Thr534Ile) rs1949929524
NM_024757.5(EHMT1):c.1602A>G (p.Thr534=) rs1465798782
NM_024757.5(EHMT1):c.1604T>C (p.Leu535Pro) rs1172239495
NM_024757.5(EHMT1):c.1607_1631delinsTTGTTGGCCAGTG (p.Ala536_Glu544delinsValValGlyGlnTrp)
NM_024757.5(EHMT1):c.1613A>G (p.Asn538Ser) rs1588581251
NM_024757.5(EHMT1):c.1625C>G (p.Ala542Gly)
NM_024757.5(EHMT1):c.1634G>A (p.Ser545Asn)
NM_024757.5(EHMT1):c.1635C>T (p.Ser545=)

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