ClinVar Miner

List of variants in gene FKTN reported as uncertain significance for Walker-Warburg congenital muscular dystrophy

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Total variants: 76
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HGVS dbSNP
NC_000009.11:g.(?_108337304)_(108358948_?)dup
NM_006731.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647
NM_006731.2(FKTN):c.1056C>G (p.Ser352Arg) rs149085844
NM_006731.2(FKTN):c.1086T>A (p.Asp362Glu)
NM_006731.2(FKTN):c.10A>C (p.Ile4Leu) rs757900916
NM_006731.2(FKTN):c.1129A>G (p.Met377Val) rs1200757732
NM_006731.2(FKTN):c.1135A>G (p.Asn379Asp)
NM_006731.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_006731.2(FKTN):c.1174T>C (p.Tyr392His)
NM_006731.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879
NM_006731.2(FKTN):c.1205C>T (p.Thr402Ile)
NM_006731.2(FKTN):c.124A>G (p.Lys42Glu)
NM_006731.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_006731.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
NM_006731.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_006731.2(FKTN):c.1298C>T (p.Thr433Met)
NM_006731.2(FKTN):c.12C>G (p.Ile4Met)
NM_006731.2(FKTN):c.1315_1316TC[3] (p.Pro440fs) rs886042778
NM_006731.2(FKTN):c.1319C>T (p.Pro440Leu) rs1564357396
NM_006731.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_006731.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_006731.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_006731.2(FKTN):c.13A>G (p.Asn5Asp)
NM_006731.2(FKTN):c.140G>A (p.Arg47Gln)
NM_006731.2(FKTN):c.14A>G (p.Asn5Ser)
NM_006731.2(FKTN):c.170C>T (p.Ala57Val) rs1554751104
NM_006731.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_006731.2(FKTN):c.22G>A (p.Val8Met)
NM_006731.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_006731.2(FKTN):c.292A>G (p.Thr98Ala)
NM_006731.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_006731.2(FKTN):c.293C>T (p.Thr98Ile) rs376452959
NM_006731.2(FKTN):c.29T>C (p.Leu10Ser)
NM_006731.2(FKTN):c.300A>G (p.Gln100=)
NM_006731.2(FKTN):c.34C>G (p.Leu12Val) rs939985733
NM_006731.2(FKTN):c.369+4A>G
NM_006731.2(FKTN):c.369+6T>G rs1554751423
NM_006731.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_006731.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996
NM_006731.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441
NM_006731.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_006731.2(FKTN):c.400G>A (p.Gly134Arg) rs1554752862
NM_006731.2(FKTN):c.41C>T (p.Thr14Met) rs149033995
NM_006731.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939
NM_006731.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690
NM_006731.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_006731.2(FKTN):c.489C>G (p.Ile163Met) rs980208971
NM_006731.2(FKTN):c.511A>T (p.Ile171Phe)
NM_006731.2(FKTN):c.545A>G (p.Asn182Ser)
NM_006731.2(FKTN):c.556C>T (p.His186Tyr)
NM_006731.2(FKTN):c.569G>A (p.Arg190Lys)
NM_006731.2(FKTN):c.584T>C (p.Ile195Thr)
NM_006731.2(FKTN):c.586G>T (p.Asp196Tyr) rs756748012
NM_006731.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_006731.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_006731.2(FKTN):c.643G>C (p.Asp215His) rs745975808
NM_006731.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195
NM_006731.2(FKTN):c.719_721AAG[1] (p.Glu241del) rs1437925297
NM_006731.2(FKTN):c.780G>A (p.Gln260=) rs1459814015
NM_006731.2(FKTN):c.787C>G (p.Leu263Val)
NM_006731.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947
NM_006731.2(FKTN):c.802G>T (p.Val268Leu) rs878854165
NM_006731.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116
NM_006731.2(FKTN):c.822G>T (p.Arg274=) rs997235832
NM_006731.2(FKTN):c.83A>G (p.Tyr28Cys) rs374203636
NM_006731.2(FKTN):c.854C>T (p.Ala285Val) rs137951613
NM_006731.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516
NM_006731.2(FKTN):c.877G>C (p.Val293Leu)
NM_006731.2(FKTN):c.885C>G (p.Phe295Leu) rs1564319328
NM_006731.2(FKTN):c.905G>A (p.Cys302Tyr) rs1554757939
NM_006731.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_006731.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304
NM_006731.2(FKTN):c.92A>G (p.Tyr31Cys)
NM_006731.2(FKTN):c.938C>T (p.Pro313Leu)
NM_006731.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_006731.2(FKTN):c.952G>A (p.Val318Ile) rs141120187

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