ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by New York Genome Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu) rs150684410 0.00030
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) rs147055570 0.00029
NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala) rs542967760 0.00007
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163

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