ClinVar Miner

List of variants in gene FKTN studied for Fukuyama congenital muscular dystrophy; Limb-girdle muscular dystrophy-dystroglycanopathy, type C4; Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4

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Total variants: 3
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HGVS dbSNP
NM_001079802.1(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.1(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_001079802.1(FKTN):c.608G>A (p.Arg203Gln) rs34787999

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