ClinVar Miner

List of variants reported as likely pathogenic 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: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1129_1130del (p.Met377fs) rs1554761402 0.00001
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512 0.00001
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
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.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.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.165+5G>A rs2132596368
NM_001079802.2(FKTN):c.245T>A (p.Leu82Ter)
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.370-2A>G rs1554752805
NM_001079802.2(FKTN):c.378del (p.Trp126fs)
NM_001079802.2(FKTN):c.400G>T (p.Gly134Ter)
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.456_457del (p.Ser154fs) rs760731888
NM_001079802.2(FKTN):c.528dup (p.His177fs) rs1588112379
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.69dup (p.Gln24fs)
NM_001079802.2(FKTN):c.745_746delinsT (p.Glu249fs)
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.840dup (p.Leu281fs)
NM_001079802.2(FKTN):c.970_973delinsTT (p.Ile324fs)

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.