ClinVar Miner

List of variants in gene EHMT1 reported as pathogenic by Invitae

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NC_000009.11:g.(?_140513481)_(140513521_?)del
NC_000009.11:g.(?_140513481)_(140657292_?)del
NC_000009.11:g.(?_140637803)_(140638562_?)del
NM_024757.5(EHMT1):c.1058C>G (p.Ser353Ter)
NM_024757.5(EHMT1):c.162del (p.Asn55fs) rs2135501951
NM_024757.5(EHMT1):c.1800dup (p.Met601fs)
NM_024757.5(EHMT1):c.2099dup (p.Pro701fs)
NM_024757.5(EHMT1):c.2161del (p.Glu721fs) rs2136712996
NM_024757.5(EHMT1):c.2505+1G>A
NM_024757.5(EHMT1):c.2608-1G>A rs1588784791
NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter) rs886041844
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_024757.5(EHMT1):c.2825dup (p.Leu943fs) rs2137672729
NM_024757.5(EHMT1):c.2863_2864del (p.Val955fs) rs137852721
NM_024757.5(EHMT1):c.2867dup (p.Leu957fs)
NM_024757.5(EHMT1):c.2877_2880del (p.Ser960fs) rs786205129
NM_024757.5(EHMT1):c.2995del (p.Ala999fs)
NM_024757.5(EHMT1):c.3000del (p.Asp1001fs) rs1954627505
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) rs1429360126
NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter) rs137852725
NM_024757.5(EHMT1):c.3393C>A (p.Tyr1131Ter) rs2132792568
NM_024757.5(EHMT1):c.344_345del (p.Val115fs)
NM_024757.5(EHMT1):c.346C>T (p.Gln116Ter)
NM_024757.5(EHMT1):c.3482C>G (p.Ser1161Ter) rs2132809199
NM_024757.5(EHMT1):c.3579del (p.Asn1194fs) rs2133152290
NM_024757.5(EHMT1):c.40del (p.Glu14fs) rs1564618717
NM_024757.5(EHMT1):c.40dup (p.Glu14fs) rs1564618717
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) rs1554846766
NM_024757.5(EHMT1):c.719dup (p.Asn240fs)
NM_024757.5(EHMT1):c.784C>T (p.Gln262Ter) rs2135784846
NM_024757.5(EHMT1):c.823+2T>G

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