ClinVar Miner

List of variants in gene FKTN reported as pathogenic for Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4

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Total variants: 2
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HGVS dbSNP
FKTN, 1-BP DEL, 42G
NM_006731.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992

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