ClinVar Miner

List of variants reported as likely pathogenic for Primary autosomal recessive microcephaly 1

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Total variants: 4
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HGVS dbSNP
NM_024596.5(MCPH1):c.128T>C (p.Phe43Ser) rs587783733
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.1974-2A>G rs541042265
NM_024596.5(MCPH1):c.278C>A (p.Ala93Glu) rs587783741

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