ClinVar Miner

List of variants studied for Fukuyama congenital muscular dystrophy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_001079802.1(FKTN):c.*1017A>G rs886063324
NM_001079802.1(FKTN):c.*1018T>A rs16924759
NM_001079802.1(FKTN):c.*1133A>G rs2768282
NM_001079802.1(FKTN):c.*1249C>T rs79589823
NM_001079802.1(FKTN):c.*1276C>T rs886063325
NM_001079802.1(FKTN):c.*1511A>G rs886063326
NM_001079802.1(FKTN):c.*1681G>A rs886063327
NM_001079802.1(FKTN):c.*1845G>T rs886063328
NM_001079802.1(FKTN):c.*2265T>C rs76003803
NM_001079802.1(FKTN):c.*2433G>A rs886063329
NM_001079802.1(FKTN):c.*2505A>G rs367988702
NM_001079802.1(FKTN):c.*2508G>T rs886063330
NM_001079802.1(FKTN):c.*2516G>T rs886063331
NM_001079802.1(FKTN):c.*2904G>A rs138806979
NM_001079802.1(FKTN):c.*2910C>A rs148937517
NM_001079802.1(FKTN):c.*2984C>T rs886063332
NM_001079802.1(FKTN):c.*3046T>C rs886063333
NM_001079802.1(FKTN):c.*3156A>T rs886063334
NM_001079802.1(FKTN):c.*324G>C rs536822992
NM_001079802.1(FKTN):c.*3377A>G rs148172557
NM_001079802.1(FKTN):c.*3432dupT rs879020291
NM_001079802.1(FKTN):c.*3547C>T rs886063336
NM_001079802.1(FKTN):c.*3861T>C rs185745657
NM_001079802.1(FKTN):c.*3918A>G rs17316607
NM_001079802.1(FKTN):c.*4238delG rs776272545
NM_001079802.1(FKTN):c.*42delA rs749100291
NM_001079802.1(FKTN):c.*436C>T rs886063322
NM_001079802.1(FKTN):c.*4599G>A rs886063338
NM_001079802.1(FKTN):c.*4825T>C rs115155934
NM_001079802.1(FKTN):c.*4940C>G rs886063339
NM_001079802.1(FKTN):c.*5003T>G rs886063340
NM_001079802.1(FKTN):c.*5041G>A rs1854124
NM_001079802.1(FKTN):c.*5062G>A rs1854125
NM_001079802.1(FKTN):c.*5161C>T rs886063341
NM_001079802.1(FKTN):c.*5260G>T rs2010861
NM_001079802.1(FKTN):c.*5303dupA rs879263714
NM_001079802.1(FKTN):c.*5356C>T rs553575648
NM_001079802.1(FKTN):c.*5517T>C rs114655654
NM_001079802.1(FKTN):c.*5578G>A rs41277801
NM_001079802.1(FKTN):c.*5618T>A rs1048215
NM_001079802.1(FKTN):c.*5817A>C rs886063343
NM_001079802.1(FKTN):c.*786T>G rs10978177
NM_001079802.1(FKTN):c.*818C>T rs79162268
NM_001079802.1(FKTN):c.*954T>A rs886063323
NM_001079802.1(FKTN):c.-136A>G rs886063318
NM_001079802.1(FKTN):c.-158G>C rs4742953
NM_001079802.1(FKTN):c.-181+1G>T rs574535599
NM_001079802.1(FKTN):c.-90delA rs727502845
NM_001079802.1(FKTN):c.-96T>C rs151250905
NM_001079802.1(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.1(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_001079802.1(FKTN):c.1188G>A (p.Lys396=) rs886063320
NM_001079802.1(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.1(FKTN):c.277A>G (p.Thr93Ala) rs886063319
NM_001079802.1(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.1(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_001079802.1(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079802.1(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.166-4A>G rs193922689

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