ClinVar Miner

List of variants in gene POMT1 reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1

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Total variants: 10
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HGVS dbSNP
NM_001077365.2(POMT1):c.1175+4_1175+7del rs1588409344
NM_001077365.2(POMT1):c.1194_1196del (p.Leu399del) rs587777818
NM_001077365.2(POMT1):c.2044dup (p.Ala682fs) rs587777817
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs) rs398124245
NM_001077365.2(POMT1):c.2111_2112TC[1] (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs) rs750453909
NM_001077365.2(POMT1):c.226G>A (p.Gly76Arg) rs28941782
NM_001077365.2(POMT1):c.280+1G>T rs746823238
NM_001077365.2(POMT1):c.418_420del (p.Met140del) rs587777820
NM_001077365.2(POMT1):c.841C>T (p.Gln281Ter) rs119462981

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