ClinVar Miner

List of variants reported as likely pathogenic for Fukuyama congenital muscular dystrophy by Counsyl

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_006731.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
NM_006731.2(FKTN):c.106-2A>G rs1554748292
NM_006731.2(FKTN):c.1099del (p.Val367fs) rs1554761310
NM_006731.2(FKTN):c.109G>T (p.Gly37Ter) rs773884973
NM_006731.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_006731.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402
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.330dup (p.Thr111fs) rs767865405
NM_006731.2(FKTN):c.370-2A>G rs1554752805
NM_006731.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_006731.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_006731.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_006731.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_006731.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_006731.2(FKTN):c.780+1G>A rs370819786
NM_006731.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814

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