ClinVar Miner

List of variants in gene FKRP reported as pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5

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Total variants: 1
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HGVS dbSNP
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900

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