ClinVar Miner

List of variants in gene FKTN reported as pathogenic

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Total variants: 36
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HGVS dbSNP
FKTN, 1-BP DEL, 42G
FKTN, 473-BP DEL, NT5370
FKTN, L1 INS
NM_001079802.1(FKTN):c.*4375_*4376ins3062
NM_001079802.1(FKTN):c.657dup (p.Gln220Thrfs) rs1554754678
NM_006731.2(FKTN):c.*4392_*4393insAB185332.1
NM_006731.2(FKTN):c.1073A>C (p.Gln358Pro) rs119463993
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1153A>T (p.Lys385Ter)
NM_006731.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_006731.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) rs886042778
NM_006731.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_006731.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
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.330dup (p.Thr111fs) rs767865405
NM_006731.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_006731.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991
NM_006731.2(FKTN):c.369+1G>C
NM_006731.2(FKTN):c.369+1G>T rs764125009
NM_006731.2(FKTN):c.403_404insGCCTAAATCT (p.Phe135fs) rs1564290459
NM_006731.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.432del (p.Arg146fs)
NM_006731.2(FKTN):c.454dup (p.Ser152fs) rs587777748
NM_006731.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_006731.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_006731.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_006731.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_006731.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006731.2(FKTN):c.868A>T (p.Lys290Ter)
NM_006731.2(FKTN):c.911-1G>A
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_006731.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992

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