ClinVar Miner

List of variants in gene FKTN reported as likely pathogenic

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Total variants: 30
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HGVS dbSNP
NM_001079802.1(FKTN):c.528dupT
NM_006731.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_006731.2(FKTN):c.106-2A>G rs1554748292
NM_006731.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_006731.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402
NM_006731.2(FKTN):c.1172+1G>A rs1554761462
NM_006731.2(FKTN):c.1173-1G>A rs557699482
NM_006731.2(FKTN):c.1173-1G>C rs557699482
NM_006731.2(FKTN):c.1173-2A>G rs1554766808
NM_006731.2(FKTN):c.1176C>G (p.Tyr392Ter) rs1203741361
NM_006731.2(FKTN):c.314G>T (p.Cys105Phe) rs786205597
NM_006731.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_006731.2(FKTN):c.360G>A (p.Trp120Ter) rs1564284467
NM_006731.2(FKTN):c.370-2A>G rs1554752805
NM_006731.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_006731.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006731.2(FKTN):c.648-1243G>T rs1554754182
NM_006731.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_006731.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_006731.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_006731.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_006731.2(FKTN):c.780+1G>A rs370819786
NM_006731.2(FKTN):c.780+2T>C
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814

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