ClinVar Miner

List of variants reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_006876.3(B4GAT1):c.1207G>T (p.Glu403Ter)	rs921785357

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