ClinVar Miner

List of variants in gene FKTN reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.911-236G>A rs10816284 0.44630
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_001079802.2(FKTN):c.648-1040G>A rs7035783 0.27496
NM_001079802.2(FKTN):c.-158G>C rs4742953 0.27121
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001079802.2(FKTN):c.-89+121T>C rs12342071 0.12300
NM_001079802.2(FKTN):c.*5618T>A rs1048215 0.12282
NM_001079802.2(FKTN):c.*786T>G rs10978177 0.12279
NM_001079802.2(FKTN):c.*1133A>G rs2768282 0.12157
NM_001079802.2(FKTN):c.*2280T>C rs1024366 0.12115
NM_001079802.2(FKTN):c.-89+43T>C rs2518122 0.11987
NM_001079802.2(FKTN):c.780+129T>C rs67092499 0.11756
NM_001079802.2(FKTN):c.*5041G>A rs1854124 0.11478
NM_001079802.2(FKTN):c.*5062G>A rs1854125 0.07482
NM_001079802.2(FKTN):c.1044+58C>T rs75946934 0.03554
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001079802.2(FKTN):c.*3778T>C rs79831528 0.02904
NM_001079802.2(FKTN):c.648-1338T>C rs79661382 0.02767
NM_001079802.2(FKTN):c.370-261T>C rs80316703 0.02761
NM_001079802.2(FKTN):c.-180-105T>C rs114441895 0.02736
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_001079802.2(FKTN):c.648-129T>A rs10978171 0.01897
NM_001079802.2(FKTN):c.648-1003T>G rs114684562 0.01625
NM_001079802.2(FKTN):c.*4825T>C rs115155934 0.01517
NM_001079802.2(FKTN):c.*2298C>G rs116107812 0.01491
NM_001079802.2(FKTN):c.-88-247T>A rs145429432 0.01398
NM_001079802.2(FKTN):c.105+129del rs112124536 0.01337
NM_001079802.2(FKTN):c.648-1016C>G rs116042261 0.01301
NM_001079802.2(FKTN):c.*5517T>C rs114655654 0.01215
NM_001079802.2(FKTN):c.648-1146T>G rs116908450 0.01174
NM_001079802.2(FKTN):c.*818C>T rs79162268 0.01167
NM_001079802.2(FKTN):c.781-263C>T rs180878733 0.01016
NM_001079802.2(FKTN):c.42G>A (p.Thr14=) rs78794935 0.01002
NM_001079802.2(FKTN):c.106-40A>G rs79175958 0.01001
NM_001079802.2(FKTN):c.106-10G>A rs148384394 0.01000
NM_001079802.2(FKTN):c.-88-344C>T rs74505742 0.00997
NM_001079802.2(FKTN):c.-180-228C>T rs116703997 0.00996
NM_001079802.2(FKTN):c.-191del rs138776494 0.00996
NM_001079802.2(FKTN):c.-180-242T>C rs115507264 0.00995
NM_001079802.2(FKTN):c.*1323C>T rs75764875 0.00992
NM_001079802.2(FKTN):c.*1638A>G rs78462952 0.00980
NM_001079802.2(FKTN):c.-89+243A>G rs78182480 0.00973
NM_001079802.2(FKTN):c.781-222dup rs368158605 0.00910
NM_001079802.2(FKTN):c.780+313C>T rs138420309 0.00844
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001079802.2(FKTN):c.910+14G>A rs76180538 0.00806
NM_001079802.2(FKTN):c.*5578G>A rs41277801 0.00776
NM_001079802.2(FKTN):c.106-169A>G rs112290608 0.00739
NM_001079802.2(FKTN):c.648-1404C>T rs75075378 0.00715
NM_001079802.2(FKTN):c.-180-101G>C rs140838771 0.00622
NM_001079802.2(FKTN):c.-88-110T>A rs145125963 0.00605
NM_001079802.2(FKTN):c.-108A>T rs191502146 0.00604
NM_001079802.2(FKTN):c.105+40A>C rs181305205 0.00548
NM_001079802.2(FKTN):c.-89+120G>A rs74995479 0.00505
NM_001079802.2(FKTN):c.*2427G>T rs116364105 0.00472
NM_001079802.2(FKTN):c.648-950A>G rs188992967 0.00450
NM_001079802.2(FKTN):c.648-1278A>C rs181901044 0.00425
NM_001079802.2(FKTN):c.910+59A>G rs111443273 0.00399
NM_001079802.2(FKTN):c.370-252C>T rs372938103 0.00390
NM_001079802.2(FKTN):c.165+214T>A rs113105864 0.00372
NM_001079802.2(FKTN):c.106-245C>T rs111250428 0.00367
NM_001079802.2(FKTN):c.*3861T>C rs185745657 0.00292
NM_001079802.2(FKTN):c.647+36G>A rs115199403 0.00277
NM_001079802.2(FKTN):c.910+45C>T rs142323157 0.00270
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001079802.2(FKTN):c.-88-6T>C rs115730708 0.00212
NM_001079802.2(FKTN):c.-96T>C rs151250905 0.00201
NM_001079802.2(FKTN):c.165+304A>G rs190815593 0.00170
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
NM_001079802.2(FKTN):c.-77A>G rs188804693 0.00057
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001079802.2(FKTN):c.285T>C (p.His95=) rs148046151 0.00050
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00029
NM_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_001079802.2(FKTN):c.102A>C (p.Thr34=) rs138740640 0.00025
NM_001079802.2(FKTN):c.-88-5C>T rs555754136 0.00011
NM_001079802.2(FKTN):c.647+12G>A rs372589966 0.00011
NM_001079802.2(FKTN):c.*4877T>C rs1390561303 0.00009
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
NM_001079802.2(FKTN):c.781-9T>C rs370564232 0.00006
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 0.00006
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001079802.2(FKTN):c.1248C>T (p.Leu416=) rs774804160 0.00004
NM_001079802.2(FKTN):c.1383T>C (p.Tyr461=) rs140899569 0.00004
NM_001079802.2(FKTN):c.207T>C (p.Asn69=) rs752921570 0.00004
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001079802.2(FKTN):c.911-8C>A rs749557617 0.00003
NM_001079802.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647 0.00002
NM_001079802.2(FKTN):c.1312C>T (p.Arg438Cys) rs150852885 0.00002
NM_001079802.2(FKTN):c.63G>C (p.Leu21=) rs766642997 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001079802.2(FKTN):c.1009G>T (p.Asp337Tyr) rs752721354 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1184C>T (p.Pro395Leu) rs1201619662 0.00001
NM_001079802.2(FKTN):c.1186A>C (p.Lys396Gln) rs1477740717 0.00001
NM_001079802.2(FKTN):c.1195C>T (p.Leu399=) rs768867435 0.00001
NM_001079802.2(FKTN):c.1260A>G (p.Glu420=) rs1290782710 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly) rs1064796459 0.00001
NM_001079802.2(FKTN):c.166-12T>A rs1419099088 0.00001
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644 0.00001
NM_001079802.2(FKTN):c.21C>T (p.Asn7=) rs564632018 0.00001
NM_001079802.2(FKTN):c.296C>T (p.Ser99Leu) rs768260007 0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616 0.00001
NM_001079802.2(FKTN):c.389C>T (p.Ala130Val) rs752196884 0.00001
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690 0.00001
NM_001079802.2(FKTN):c.508G>A (p.Ala170Thr) rs778818366 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr) rs753503050 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_001079802.2(FKTN):c.706A>G (p.Met236Val) rs886042241 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001079802.2(FKTN):c.855G>A (p.Ala285=) rs1057521448 0.00001
NM_001079802.2(FKTN):c.*1859G>C rs149725616
NM_001079802.2(FKTN):c.*2995T>G rs77017417
NM_001079802.2(FKTN):c.*4388del rs148253503
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.*806G>C rs75971372
NM_001079802.2(FKTN):c.-180-102G>A rs116486520
NM_001079802.2(FKTN):c.-180-102G>T rs116486520
NM_001079802.2(FKTN):c.-180-15del rs796889209
NM_001079802.2(FKTN):c.-180-15dup rs796889209
NM_001079802.2(FKTN):c.-199C>T rs1589136419
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.-6A>G
NM_001079802.2(FKTN):c.-88-268_-88-266del rs143993607
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1045G>A (p.Val349Ile) rs1831549660
NM_001079802.2(FKTN):c.106-18C>T rs748663594
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1172+86C>A rs142935024
NM_001079802.2(FKTN):c.1173A>G (p.Lys391=) rs2133450404
NM_001079802.2(FKTN):c.1176C>G (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1185G>A (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1268A>C (p.Tyr423Ser) rs938689811
NM_001079802.2(FKTN):c.1269T>C (p.Tyr423=) rs1554766906
NM_001079802.2(FKTN):c.1300T>C (p.Trp434Arg) rs570224071
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.1371_1381dup (p.Tyr461fs) rs727502847
NM_001079802.2(FKTN):c.22G>A (p.Val8Met) rs368981218
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.360G>A (p.Trp120Ter) rs1564284467
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.439C>A (p.Leu147Ile) rs727502846
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.482A>G (p.His161Arg) rs727502848
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_001079802.2(FKTN):c.58T>G (p.Phe20Val) rs1554731003
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.648-1102_648-1099dup rs386415742
NM_001079802.2(FKTN):c.648-1109TC[5] rs10685946
NM_001079802.2(FKTN):c.648-1124TA[2] rs201784966
NM_001079802.2(FKTN):c.648-1138AT[6] rs34580084
NM_001079802.2(FKTN):c.661C>A (p.Gln221Lys) rs1829182209
NM_001079802.2(FKTN):c.756T>A (p.Tyr252Ter) rs1564301594
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.76TAC[2] (p.Tyr28del) rs1554731028
NM_001079802.2(FKTN):c.781-251del rs11300525
NM_001079802.2(FKTN):c.867C>T (p.Asn289=) rs1554757882
NM_001079802.2(FKTN):c.910+19T>G rs771773538
NM_001079802.2(FKTN):c.910+290T>G rs112299748
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_001079802.2(FKTN):c.911-18dup rs757992747
NM_001079802.2(FKTN):c.911-281_911-278del rs142409956

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