ClinVar Miner

List of variants in gene MCPH1 reported by Baylor Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp) rs200820759 0.00027
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys) rs757012933 0.00006
NM_024596.5(MCPH1):c.149T>G (p.Val50Gly) rs566242931 0.00003
NM_024596.5(MCPH1):c.151A>G (p.Ile51Val) rs538316396 0.00003
NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp) rs754200749

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