ClinVar Miner

List of variants studied for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 219
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
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.*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.*5260G>T rs2010861 0.11975
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.373G>A (p.Gly125Ser) rs34006675 0.03359
NM_001079802.2(FKTN):c.*3778T>C rs79831528 0.02904
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
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.*5517T>C rs114655654 0.01215
NM_001079802.2(FKTN):c.*818C>T rs79162268 0.01167
NM_001079802.2(FKTN):c.*1638A>G rs78462952 0.00980
NM_001079802.2(FKTN):c.*4491T>C rs41316524 0.00811
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.*1229A>G rs116549376 0.00711
NM_001079802.2(FKTN):c.*2213A>G rs141298287 0.00678
NM_001079802.2(FKTN):c.*2427G>T rs116364105 0.00472
NM_001079802.2(FKTN):c.*2265T>C rs76003803 0.00304
NM_001079802.2(FKTN):c.*3861T>C rs185745657 0.00292
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_001079802.2(FKTN):c.*2592T>C rs538086095 0.00220
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.*1018T>A rs16924759 0.00204
NM_001079802.2(FKTN):c.-96T>C rs151250905 0.00201
NM_001079802.2(FKTN):c.*3460G>A rs539474742 0.00168
NM_001079802.2(FKTN):c.*3918A>G rs17316607 0.00167
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.*1010G>A rs144159266 0.00068
NM_001079802.2(FKTN):c.*712C>T rs535353095 0.00062
NM_001079802.2(FKTN):c.-77A>G rs188804693 0.00057
NM_001079802.2(FKTN):c.*100G>A rs542491025 0.00055
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001079802.2(FKTN):c.*2910C>A rs148937517 0.00041
NM_001079802.2(FKTN):c.*1249C>T rs79589823 0.00039
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001079802.2(FKTN):c.*1843A>T rs117283748 0.00026
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.*1845G>T rs886063328 0.00016
NM_001079802.2(FKTN):c.*5356C>T rs553575648 0.00016
NM_001079802.2(FKTN):c.*71C>T rs747766931 0.00016
NM_001079802.2(FKTN):c.*2433G>A rs886063329 0.00015
NM_001079802.2(FKTN):c.*1017A>G rs886063324 0.00014
NM_001079802.2(FKTN):c.*1681G>A rs886063327 0.00014
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.*3377A>G rs148172557 0.00010
NM_001079802.2(FKTN):c.*2984C>T rs886063332 0.00008
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001079802.2(FKTN):c.*2254A>G rs764218622 0.00006
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.207T>C (p.Asn69=) rs752921570 0.00004
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463 0.00004
NM_001079802.2(FKTN):c.*1276C>T rs886063325 0.00003
NM_001079802.2(FKTN):c.*2505A>G rs367988702 0.00003
NM_001079802.2(FKTN):c.*760A>C rs532531159 0.00003
NM_001079802.2(FKTN):c.*79C>T rs530616539 0.00003
NM_001079802.2(FKTN):c.-136A>G rs886063318 0.00003
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.*2464G>A rs1054760144 0.00002
NM_001079802.2(FKTN):c.*3352C>A rs143805719 0.00002
NM_001079802.2(FKTN):c.-39G>A rs1284252327 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.1325A>G (p.Asn442Ser) rs1429464723 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.*1511A>G rs886063326 0.00001
NM_001079802.2(FKTN):c.*166A>G rs1419619269 0.00001
NM_001079802.2(FKTN):c.*324G>C rs536822992 0.00001
NM_001079802.2(FKTN):c.*4501A>G rs1045549173 0.00001
NM_001079802.2(FKTN):c.*4599G>A rs886063338 0.00001
NM_001079802.2(FKTN):c.*462T>C rs1014071784 0.00001
NM_001079802.2(FKTN):c.*4908A>G rs1834324161 0.00001
NM_001079802.2(FKTN):c.*4940C>G rs886063339 0.00001
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.*777C>A rs369316426 0.00001
NM_001079802.2(FKTN):c.-114G>A rs1564210000 0.00001
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402 0.00001
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser) rs727502849 0.00001
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=) rs886063320 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.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319 0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991 0.00001
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512 0.00001
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690 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.*2516G>T rs886063331
NM_001079802.2(FKTN):c.*2640G>C rs556673268
NM_001079802.2(FKTN):c.*2674A>G rs1834156242
NM_001079802.2(FKTN):c.*2902C>T rs1834171760
NM_001079802.2(FKTN):c.*2904G>A rs138806979
NM_001079802.2(FKTN):c.*3046T>C rs886063333
NM_001079802.2(FKTN):c.*3156A>T rs886063334
NM_001079802.2(FKTN):c.*3312T>G rs1343215418
NM_001079802.2(FKTN):c.*3432dup rs879020291
NM_001079802.2(FKTN):c.*3985C>T rs1293866364
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.*4646A>G rs1834308173
NM_001079802.2(FKTN):c.*4705G>A rs1834312188
NM_001079802.2(FKTN):c.*4826A>G rs1834318656
NM_001079802.2(FKTN):c.*4859A>G rs1554768242
NM_001079802.2(FKTN):c.*4859A>T rs1554768242
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.*5374_*5846del
NM_001079802.2(FKTN):c.*5817A>C rs886063343
NM_001079802.2(FKTN):c.*806G>C rs75971372
NM_001079802.2(FKTN):c.-181+1G>C rs574535599
NM_001079802.2(FKTN):c.-181+1G>T rs574535599
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1044+17G>C rs200801909
NM_001079802.2(FKTN):c.106-2A>G rs1554748292
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.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1172+1G>A rs1554761462
NM_001079802.2(FKTN):c.1173-1G>A rs557699482
NM_001079802.2(FKTN):c.1173-1G>C rs557699482
NM_001079802.2(FKTN):c.1173-2A>G rs1554766808
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.1261_1286delinsACC (p.Ala421fs) rs1588315166
NM_001079802.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.165+5G>A rs2132596368
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_001079802.2(FKTN):c.187_188del (p.Met63fs) rs587777813
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
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.370-2A>G rs1554752805
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
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.429del (p.Asp144fs) rs1057516258
NM_001079802.2(FKTN):c.436dup (p.Arg146fs)
NM_001079802.2(FKTN):c.442_443del (p.Asp148fs)
NM_001079802.2(FKTN):c.454dup (p.Ser152fs) rs587777748
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.509C>A (p.Ala170Glu) rs119464997
NM_001079802.2(FKTN):c.528dup (p.His177fs) rs1588112379
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.557A>G (p.His186Arg) rs1448279636
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer) rs2132800044
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.658_661del (p.Gln220fs) rs1057517160
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.705A>G (p.Pro235=) rs1829190548
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>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_001079802.2(FKTN):c.780+1G>A rs370819786
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg) rs1564318575
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter) rs369797361
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.910+7T>G rs1830641729
NM_001079802.2(FKTN):c.911-13A>G rs766103012
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
NM_005963.4(MYH1):c.1295A>C (p.Lys432Thr)
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
NM_006731.2:c.911-24_911-23insN[1200]
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) rs775681117

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