ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 by Daryl Scott Lab, Baylor College of Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg)	rs186882839	0.00001
NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)	rs1202301143

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