ClinVar Miner

List of variants reported as likely pathogenic for Microcephaly 5, primary, autosomal recessive by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_018136.5(ASPM):c.1598_1601del (p.Asn533fs)
NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe)	rs2125107877
NM_018136.5(ASPM):c.3742-1G>C
NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)

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