ClinVar Miner

List of variants in gene MCPH1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer) rs587783735 0.00004
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter) rs753535530 0.00002
NM_001363980.2(MCPH1):c.1935+25462_1935+25465del
NM_024596.5(MCPH1):c.1136G>T (p.Arg379Ile)
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) rs1554496609
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)
NM_024596.5(MCPH1):c.2136+1G>T
NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter)
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter) rs2129580766
NM_024596.5(MCPH1):c.2422G>A (p.Val808Ile)
NM_024596.5(MCPH1):c.625_626del (p.Leu209fs)
NM_024596.5(MCPH1):c.670+5A>C
NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)

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