ClinVar Miner

List of variants in gene FKRP reported as pathogenic for Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5

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Total variants: 4
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HGVS dbSNP
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) rs104894680
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) rs104894681
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) rs121908110
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) rs104894679

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