ClinVar Miner

List of variants studied for Fukuyama congenital muscular dystrophy by Integrated Genetics/Laboratory Corporation of America

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Total variants: 6
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HGVS dbSNP
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992
NM_006731.2(FKTN):c.648-1243G>T rs1554754182

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