ClinVar Miner

List of variants reported as likely pathogenic for Primary autosomal recessive microcephaly 2

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Total variants: 8
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HGVS dbSNP
NG_028101.1:g.21672_21683del
NM_001083961.1(WDR62):c.1312C>T (p.Arg438Cys) rs587784542
NM_001083961.1(WDR62):c.1480G>A (p.Gly494Arg) rs587784543
NM_001083961.1(WDR62):c.2584G>A (p.Gly862Ser) rs587784548
NM_001083961.1(WDR62):c.3335+3A>G rs587784554
NM_001083961.1(WDR62):c.3348delC (p.Phe1117Serfs) rs797046109
NM_001083961.1(WDR62):c.359C>A (p.Ser120Tyr) rs587784558
NM_001083961.2(WDR62):c.1684C>G (p.His562Asp)

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