ClinVar Miner

List of variants studied for Microcephaly 2, primary, autosomal recessive, with or without cortical malformations by 3billion

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.2972A>T (p.Asp991Val) rs749528768 0.00006
NM_001083961.2(WDR62):c.2260C>T (p.Gln754Ter) rs2145795692
NM_001083961.2(WDR62):c.250dup (p.His84fs) rs1234259290
NM_001083961.2(WDR62):c.270-15_287del rs2145528028
NM_001083961.2(WDR62):c.3731_3740del (p.Thr1244fs)

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