ClinVar Miner

List of variants in gene FKTN reported as pathogenic for Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4

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Total variants: 11
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HGVS dbSNP
FKTN, 473-BP DEL, NT5370
FKTN, L1 INS
NM_006731.2(FKTN):c.*4392_*4393insAB185332.1
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_006731.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990
NM_006731.2(FKTN):c.187_188del (p.Met63fs) rs587777813
NM_006731.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991
NM_006731.2(FKTN):c.454dup (p.Ser152fs) rs587777748
NM_006731.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814

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