ClinVar Miner

List of variants in gene FKRP reported as uncertain significance for Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5

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Total variants: 2
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HGVS dbSNP
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) rs1555738085
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936

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