ClinVar Miner

List of variants in gene WDR62 reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001083961.2(WDR62):c.3335+3A>G rs587784554 0.00003
NM_001083961.2(WDR62):c.2584G>A (p.Gly862Ser) rs587784548 0.00001
NM_001083961.2(WDR62):c.359C>A (p.Ser120Tyr) rs587784558 0.00001
NM_001083961.2(WDR62):c.1312C>T (p.Arg438Cys) rs587784542
NM_001083961.2(WDR62):c.1963T>A (p.Tyr655Asn) rs2145777243
NM_001083961.2(WDR62):c.3348del (p.Phe1117fs) rs797046109

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