ClinVar Miner

List of variants studied for Microcephaly 5, primary, autosomal recessive by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs) rs587783263
NM_018136.5(ASPM):c.7664_7665del (p.Lys2555fs) rs587783269
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs) rs587783280

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