ClinVar Miner

List of variants in gene FKTN reported by OMIM

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991 0.00001
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001079802.2(FKTN):c.*5374_*5846del
NM_001079802.2(FKTN):c.1073A>C (p.Gln358Pro) rs119463993
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_001079802.2(FKTN):c.187_188del (p.Met63fs) rs587777813
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.454dup (p.Ser152fs) rs587777748
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
NM_006731.2:c.911-24_911-23insN[1200]

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