ClinVar Miner

List of variants reported as uncertain significance for Fukuyama congenital muscular dystrophy

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP
NM_006731.2(FKTN):c.*1017A>G rs886063324
NM_006731.2(FKTN):c.*1018T>A rs16924759
NM_006731.2(FKTN):c.*1133A>G rs2768282
NM_006731.2(FKTN):c.*1249C>T rs79589823
NM_006731.2(FKTN):c.*1276C>T rs886063325
NM_006731.2(FKTN):c.*1511A>G rs886063326
NM_006731.2(FKTN):c.*1681G>A rs886063327
NM_006731.2(FKTN):c.*1845G>T rs886063328
NM_006731.2(FKTN):c.*2265T>C rs76003803
NM_006731.2(FKTN):c.*2433G>A rs886063329
NM_006731.2(FKTN):c.*2505A>G rs367988702
NM_006731.2(FKTN):c.*2508G>T rs886063330
NM_006731.2(FKTN):c.*2516G>T rs886063331
NM_006731.2(FKTN):c.*2904G>A rs138806979
NM_006731.2(FKTN):c.*2910C>A rs148937517
NM_006731.2(FKTN):c.*2984C>T rs886063332
NM_006731.2(FKTN):c.*3046T>C rs886063333
NM_006731.2(FKTN):c.*3156A>T rs886063334
NM_006731.2(FKTN):c.*324G>C rs536822992
NM_006731.2(FKTN):c.*3377A>G rs148172557
NM_006731.2(FKTN):c.*3432dup rs879020291
NM_006731.2(FKTN):c.*3547C>T rs886063336
NM_006731.2(FKTN):c.*3861T>C rs185745657
NM_006731.2(FKTN):c.*3918A>G rs17316607
NM_006731.2(FKTN):c.*4238del rs776272545
NM_006731.2(FKTN):c.*42del rs749100291
NM_006731.2(FKTN):c.*436C>T rs886063322
NM_006731.2(FKTN):c.*4599G>A rs886063338
NM_006731.2(FKTN):c.*4825T>C rs115155934
NM_006731.2(FKTN):c.*4859A>G rs1554768242
NM_006731.2(FKTN):c.*4859A>T rs1554768242
NM_006731.2(FKTN):c.*4940C>G rs886063339
NM_006731.2(FKTN):c.*5003T>G rs886063340
NM_006731.2(FKTN):c.*5041G>A rs1854124
NM_006731.2(FKTN):c.*5062G>A rs1854125
NM_006731.2(FKTN):c.*5161C>T rs886063341
NM_006731.2(FKTN):c.*5260G>T rs2010861
NM_006731.2(FKTN):c.*5303dup rs879263714
NM_006731.2(FKTN):c.*5356C>T rs553575648
NM_006731.2(FKTN):c.*5517T>C rs114655654
NM_006731.2(FKTN):c.*5578G>A rs41277801
NM_006731.2(FKTN):c.*5817A>C rs886063343
NM_006731.2(FKTN):c.*818C>T rs79162268
NM_006731.2(FKTN):c.*954T>A rs886063323
NM_006731.2(FKTN):c.-88-1200del rs727502845
NM_006731.2(FKTN):c.-88-1206T>C rs151250905
NM_006731.2(FKTN):c.-88-1246A>G rs886063318
NM_006731.2(FKTN):c.-89+1G>C rs574535599
NM_006731.2(FKTN):c.-89+1G>T rs574535599
NM_006731.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_006731.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_006731.2(FKTN):c.1188G>A (p.Lys396=) rs886063320
NM_006731.2(FKTN):c.1201del (p.Trp401fs) rs1554766841
NM_006731.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_006731.2(FKTN):c.1228C>A (p.His410Asn) rs146272618
NM_006731.2(FKTN):c.1249G>T (p.Glu417Ter) rs765934383
NM_006731.2(FKTN):c.1264_1286del (p.Asn422fs) rs1554766898
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_006731.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_006731.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_006731.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319
NM_006731.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_006731.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_006731.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
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.557A>G (p.His186Arg) rs1448279636
NM_006731.2(FKTN):c.559G>A (p.Gly187Ser) rs1187674499
NM_006731.2(FKTN):c.681G>A (p.Leu227=) rs142604625

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.