ClinVar Miner

List of variants reported as pathogenic for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 by Baylor Genetics

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Total variants: 2
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NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter) rs1202301143
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839

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