ClinVar Miner

List of variants in gene FKTN studied for autosomal recessive limb-girdle muscular dystrophy type 2M

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001079802.2(FKTN):c.*3516T>C rs1041010308 0.00026
NM_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met) rs149033995 0.00019
NM_001079802.2(FKTN):c.*2433G>A rs886063329 0.00015
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 0.00014
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001079802.2(FKTN):c.*2508G>T rs886063330 0.00011
NM_001079802.2(FKTN):c.*3547C>T rs886063336 0.00011
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser) rs776639304 0.00006
NM_001079802.2(FKTN):c.*954T>A rs886063323 0.00005
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001079802.2(FKTN):c.*1175C>T rs996474083 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) rs759936979 0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001079802.2(FKTN):c.*5003T>G rs886063340 0.00001
NM_001079802.2(FKTN):c.*5161C>T rs886063341 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val) rs746813994 0.00001
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly) rs1037406947 0.00001
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu) rs878854165 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.1044+17G>C rs200801909
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1256T>A (p.Ile419Asn)
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_001079802.2(FKTN):c.165+5G>A rs2132596368
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) rs2132016533
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro) rs371697266
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
NM_001079802.2(FKTN):c.398del (p.Met133fs)
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del) rs1176794033
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.428_429delinsT (p.Lys143fs)
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.530A>G (p.His177Arg) rs773322779
NM_001079802.2(FKTN):c.531T>A (p.His177Gln) rs534638144
NM_001079802.2(FKTN):c.569_570del (p.Arg190fs)
NM_001079802.2(FKTN):c.587_590del (p.Asp196fs)
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.711C>G (p.His237Gln) rs562170364
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val) rs2133161218
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly) rs759791267

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