ClinVar Miner

List of variants in gene EHMT1 reported as pathogenic by GeneDx

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Total variants: 34
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HGVS dbSNP
NM_024757.5(EHMT1):c.1059_1060AG[1] (p.Glu354fs) rs1064796085
NM_024757.5(EHMT1):c.1122dup (p.Ser375fs) rs1554859292
NM_024757.5(EHMT1):c.1420G>T (p.Gly474Ter) rs1564704133
NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter) rs1554871138
NM_024757.5(EHMT1):c.1602dup (p.Leu535fs) rs1554871182
NM_024757.5(EHMT1):c.181_190delinsCCATT (p.Ser61fs) rs1554846052
NM_024757.5(EHMT1):c.2222del (p.Gln741fs) rs886041797
NM_024757.5(EHMT1):c.2408C>G (p.Ser803Ter) rs886042018
NM_024757.5(EHMT1):c.2431_2435delinsTGGG (p.Met811fs) rs886042048
NM_024757.5(EHMT1):c.2506-2A>G rs1554888910
NM_024757.5(EHMT1):c.2622G>A (p.Trp874Ter) rs1057524142
NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter) rs886041844
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_024757.5(EHMT1):c.2713-1G>A rs1554895172
NM_024757.5(EHMT1):c.2867+5G>A rs886039703
NM_024757.5(EHMT1):c.2873_2876TTCT[1] (p.Ser960fs) rs786205129
NM_024757.5(EHMT1):c.2950C>T (p.Gln984Ter) rs1085307843
NM_024757.5(EHMT1):c.2958G>A (p.Trp986Ter) rs1554896104
NM_024757.5(EHMT1):c.302C>G (p.Ser101Ter) rs1085307748
NM_024757.5(EHMT1):c.3072_3073del (p.Val1026fs) rs1085307734
NM_024757.5(EHMT1):c.3122_3123TC[2] (p.Gln1043fs) rs1554896575
NM_024757.5(EHMT1):c.3127C>T (p.Gln1043Ter) rs1064796996
NM_024757.5(EHMT1):c.3258+1del rs1554897110
NM_024757.5(EHMT1):c.3259-1G>A rs1554897763
NM_024757.5(EHMT1):c.3342delinsAAG (p.Asn1114fs) rs886041450
NM_024757.5(EHMT1):c.355del (p.Val119fs) rs1064793748
NM_024757.5(EHMT1):c.3649C>T (p.Gln1217Ter) rs1554908411
NM_024757.5(EHMT1):c.417dup (p.Thr140fs) rs1131691715
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) rs1554846766
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.5(EHMT1):c.682del (p.Arg228fs) rs1554852597
NM_024757.5(EHMT1):c.733G>T (p.Gly245Ter) rs1554852648
NM_024757.5(EHMT1):c.756del (p.Phe253fs) rs1554852664
NM_024757.5(EHMT1):c.756dup (p.Phe253fs) rs1554852664

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