ClinVar Miner

Variants in gene EHMT1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386 0.00034
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902 0.00034
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175 0.00029
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln) rs377070695 0.00026
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805 0.00020
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060 0.00017
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00010
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) rs771654748 0.00007
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713 0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00006
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu) rs146814571 0.00002
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132 0.00001
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530 0.00001
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) rs761554206 0.00001
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp) rs1300327079
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe) rs866512456
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) rs1342402816

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