ClinVar Miner

List of variants reported as pathogenic for Microcephaly 5, primary, autosomal recessive by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.6568C>T (p.Gln2190Ter)	rs199910503	0.00004
NM_018136.5(ASPM):c.3082+1G>C	rs886041709
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter)	rs199422187

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