ClinVar Miner

List of variants studied for Fukuyama congenital muscular dystrophy

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ClinVar version:
Total variants: 154
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HGVS dbSNP
NM_001079802.2(FKTN):c.*100G>A
NM_001079802.2(FKTN):c.*1010G>A
NM_001079802.2(FKTN):c.*1017A>G rs886063324
NM_001079802.2(FKTN):c.*1018T>A rs16924759
NM_001079802.2(FKTN):c.*1133A>G rs2768282
NM_001079802.2(FKTN):c.*1175C>T
NM_001079802.2(FKTN):c.*1229A>G
NM_001079802.2(FKTN):c.*1249C>T rs79589823
NM_001079802.2(FKTN):c.*1276C>T rs886063325
NM_001079802.2(FKTN):c.*1511A>G rs886063326
NM_001079802.2(FKTN):c.*1638A>G
NM_001079802.2(FKTN):c.*166A>G
NM_001079802.2(FKTN):c.*1681G>A rs886063327
NM_001079802.2(FKTN):c.*1843A>T
NM_001079802.2(FKTN):c.*1845G>T rs886063328
NM_001079802.2(FKTN):c.*2213A>G
NM_001079802.2(FKTN):c.*2254A>G
NM_001079802.2(FKTN):c.*2265T>C rs76003803
NM_001079802.2(FKTN):c.*2280T>C rs1024366
NM_001079802.2(FKTN):c.*2298C>G
NM_001079802.2(FKTN):c.*2427G>T
NM_001079802.2(FKTN):c.*2433G>A rs886063329
NM_001079802.2(FKTN):c.*2464G>A
NM_001079802.2(FKTN):c.*2505A>G rs367988702
NM_001079802.2(FKTN):c.*2508G>T rs886063330
NM_001079802.2(FKTN):c.*2516G>T rs886063331
NM_001079802.2(FKTN):c.*2592T>C
NM_001079802.2(FKTN):c.*2640G>C
NM_001079802.2(FKTN):c.*2674A>G
NM_001079802.2(FKTN):c.*2902C>T
NM_001079802.2(FKTN):c.*2904G>A rs138806979
NM_001079802.2(FKTN):c.*2910C>A rs148937517
NM_001079802.2(FKTN):c.*2984C>T rs886063332
NM_001079802.2(FKTN):c.*3046T>C rs886063333
NM_001079802.2(FKTN):c.*3156A>T rs886063334
NM_001079802.2(FKTN):c.*324G>C rs536822992
NM_001079802.2(FKTN):c.*3312T>G
NM_001079802.2(FKTN):c.*3352C>A
NM_001079802.2(FKTN):c.*3377A>G rs148172557
NM_001079802.2(FKTN):c.*3432dup rs879020291
NM_001079802.2(FKTN):c.*3460G>A
NM_001079802.2(FKTN):c.*3516T>C
NM_001079802.2(FKTN):c.*3547C>T rs886063336
NM_001079802.2(FKTN):c.*3778T>C
NM_001079802.2(FKTN):c.*3861T>C rs185745657
NM_001079802.2(FKTN):c.*3918A>G rs17316607
NM_001079802.2(FKTN):c.*3985C>T
NM_001079802.2(FKTN):c.*4238del rs776272545
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.*436C>T rs886063322
NM_001079802.2(FKTN):c.*4491T>C
NM_001079802.2(FKTN):c.*4501A>G
NM_001079802.2(FKTN):c.*4599G>A rs886063338
NM_001079802.2(FKTN):c.*462T>C
NM_001079802.2(FKTN):c.*4646A>G
NM_001079802.2(FKTN):c.*4705G>A
NM_001079802.2(FKTN):c.*4825T>C rs115155934
NM_001079802.2(FKTN):c.*4826A>G
NM_001079802.2(FKTN):c.*4859A>G rs1554768242
NM_001079802.2(FKTN):c.*4859A>T rs1554768242
NM_001079802.2(FKTN):c.*4908A>G
NM_001079802.2(FKTN):c.*4940C>G rs886063339
NM_001079802.2(FKTN):c.*5003T>G rs886063340
NM_001079802.2(FKTN):c.*5041G>A rs1854124
NM_001079802.2(FKTN):c.*5062G>A rs1854125
NM_001079802.2(FKTN):c.*5161C>T rs886063341
NM_001079802.2(FKTN):c.*5260G>T rs2010861
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.*5356C>T rs553575648
NM_001079802.2(FKTN):c.*5517T>C rs114655654
NM_001079802.2(FKTN):c.*5578G>A rs41277801
NM_001079802.2(FKTN):c.*5618T>A rs1048215
NM_001079802.2(FKTN):c.*5817A>C rs886063343
NM_001079802.2(FKTN):c.*712C>T
NM_001079802.2(FKTN):c.*71C>T
NM_001079802.2(FKTN):c.*760A>C
NM_001079802.2(FKTN):c.*777C>A
NM_001079802.2(FKTN):c.*786T>G rs10978177
NM_001079802.2(FKTN):c.*79C>T
NM_001079802.2(FKTN):c.*806G>C
NM_001079802.2(FKTN):c.*818C>T rs79162268
NM_001079802.2(FKTN):c.*954T>A rs886063323
NM_001079802.2(FKTN):c.-114G>A
NM_001079802.2(FKTN):c.-136A>G rs886063318
NM_001079802.2(FKTN):c.-158G>C rs4742953
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_001079802.2(FKTN):c.-39G>A
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.-77A>G rs188804693
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001079802.2(FKTN):c.-96T>C rs151250905
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_001079802.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=) rs886063320
NM_001079802.2(FKTN):c.1201del (p.Trp401fs) rs1554766841
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690
NM_001079802.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001079802.2(FKTN):c.705A>G (p.Pro235=)
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116
NM_001079802.2(FKTN):c.910+7T>G
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992
NM_006731.2(FKTN):c.-88-6T>C rs115730708
NM_006731.2(FKTN):c.-89+1G>C rs574535599
NM_006731.2(FKTN):c.-89+1G>T rs574535599
NM_006731.2(FKTN):c.106-2A>G rs1554748292
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.166-4A>G rs193922689
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.207T>C (p.Asn69=) rs752921570
NM_006731.2(FKTN):c.370-2A>G rs1554752805
NM_006731.2(FKTN):c.528dup (p.His177fs) rs1588112379
NM_006731.2(FKTN):c.648-1243G>T rs1554754182
NM_006731.2(FKTN):c.780+1G>A rs370819786
NM_006731.2(FKTN):c.910+14G>A rs76180538
NM_006731.2(FKTN):c.911-13A>G rs766103012
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117

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