ClinVar Miner

List of variants 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.2111_2112TC[1] (p.Ser705fs) rs587777819
NM_001077365.2(POMT1):c.280+1G>T
NM_001136114.1(POMT1):c.-122-186G>A rs28941782
NM_001353200.2(POMT1):c.-30+1052_-30+1054del rs587777820
NM_006731.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_007171.3(POMT1):c.1260_1262del (p.Leu421del) rs587777818
NM_007171.3(POMT1):c.2110dup (p.Ala704fs) rs587777817
NM_007171.3(POMT1):c.2167dup (p.Asp723fs) rs398124245
NM_007171.3(POMT1):c.2210_2213dup (p.Asp738fs)
NM_007171.3(POMT1):c.907C>T (p.Gln303Ter) rs119462981

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