ClinVar Miner

List of variants studied for Fukuyama congenital muscular dystrophy by Counsyl

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Total variants: 33
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HGVS dbSNP
NM_001079802.2(FKTN):c.*4859A>G rs1554768242
NM_001079802.2(FKTN):c.*4859A>T rs1554768242
NM_001079802.2(FKTN):c.-1_2del (p.Met1del) rs1180986256
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.1112A>G (p.Tyr371Cys) rs119464998
NM_001079802.2(FKTN):c.1129_1130del (p.Met377fs) rs1554761402
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.1264_1286del (p.Asn422fs) rs1554766898
NM_001079802.2(FKTN):c.175_180del (p.Lys59_Lys60del) rs1554751112
NM_001079802.2(FKTN):c.189_191del (p.Met63_Leu64delinsIle) rs1554751136
NM_001079802.2(FKTN):c.330dup (p.Thr111fs) rs767865405
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.429del (p.Asp144fs) rs1057516258
NM_001079802.2(FKTN):c.42del (p.Thr14_Leu15insTer) rs1309132512
NM_001079802.2(FKTN):c.557A>G (p.His186Arg) rs1448279636
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.658_661del (p.Gln220fs) rs1057517160
NM_001079802.2(FKTN):c.770del (p.Ala257fs) rs1057516966
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814
NM_006731.2(FKTN):c.-89+1G>C rs574535599
NM_006731.2(FKTN):c.106-2A>G rs1554748292
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.370-2A>G rs1554752805
NM_006731.2(FKTN):c.780+1G>A rs370819786

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