ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Geisinger Autism and Developmental Medicine Institute, Geisinger Health System

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)	rs41299625	0.00095
NM_018136.5(ASPM):c.6916_6919del (p.Leu2306fs)	rs1064795945

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