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

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Total variants: 12

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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.1112A>G (p.Tyr371Cys)	rs119464998
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.340G>A (p.Ala114Thr)	rs119463995
NM_001079802.2(FKTN):c.557A>G (p.His186Arg)	rs1448279636
NM_006731.2(FKTN):c.-89+1G>C	rs574535599

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