ClinVar Miner

List of variants in gene WDR62 reported as pathogenic by OMIM

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Total variants: 13
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HGVS dbSNP
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His) rs387907082
NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) rs267607177
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659
NM_001083961.2(WDR62):c.193G>A (p.Val65Met) rs387907084
NM_001083961.2(WDR62):c.2086del (p.Ser696fs) rs863223322
NM_001083961.2(WDR62):c.2742_2743AG[2] (p.Gln918fs) rs764201220
NM_001083961.2(WDR62):c.363del (p.Asp122fs) rs587776901
NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) rs397704725
NM_001083961.2(WDR62):c.3936dup (p.Val1313fs) rs587776900
NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) rs397704721
NM_001083961.2(WDR62):c.4241dup (p.Ser1415fs) rs587776899
NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) rs267607176

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