ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 by Knight Diagnostic Laboratories,Oregon Health and Sciences University

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Total variants: 2
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HGVS dbSNP
NM_001077365.2(POMT1):c.558G>A (p.Trp186Ter) rs772370177
NM_007171.3(POMT1):c.2167dup (p.Asp723fs) rs398124245

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