ClinVar Miner

List of variants reported as pathogenic for Microcephaly 6, primary, autosomal recessive by Genetic Services Laboratory, University of Chicago

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018451.5(CPAP):c.1586C>G (p.Ser529Ter)	rs202058504	0.00029
NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter)	rs587783410	0.00001

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