List of variants reported as uncertain significance for muscular dystrophy-dystroglycanopathy, type A by Counsyl

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His)	rs386834010	0.00004
NM_017739.4(POMGNT1):c.*531C>T	rs769094628	0.00003
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)	rs119464998	0.00002
NM_017739.4(POMGNT1):c.*500G>A	rs764840485	0.00002
NM_017739.4(POMGNT1):c.1463G>A (p.Arg488Gln)	rs766382416	0.00002
NM_017739.4(POMGNT1):c.30_33del	rs1553162554	0.00001
NM_017739.4(POMGNT1):c.404_405dup	rs940315351	0.00001
NM_017739.4(POMGNT1):c.1513G>A (p.Gly505Ser)	rs760705290	0.00001
NM_017739.4(POMGNT1):c.1865T>C (p.Leu622Pro)	rs377170894	0.00001
NM_001079802.2(FKTN):c.*4859A>G	rs1554768242
NM_001079802.2(FKTN):c.*4859A>T	rs1554768242
NM_001079802.2(FKTN):c.-181+1G>C	rs574535599
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_017739.4(POMGNT1):c.335_361del	rs754791169
NM_017739.4(POMGNT1):c.*499G>A	rs866924336
NM_017739.4(POMGNT1):c.*513del	rs1553162438
NM_017739.4(POMGNT1):c.*5TCC[1]	rs780919404
NM_017739.4(POMGNT1):c.1842_1844del (p.Leu614del)	rs1553162667
NM_017739.4(POMGNT1):c.1947G>T (p.Lys649Asn)	rs144068158
NM_017739.4(POMGNT1):c.1966_1974dup (p.Ala656_Glu658dup)	rs1553162587
NM_017739.4(POMGNT1):c.512_517dup (p.Arg171_Val172dup)	rs1553163909
NM_017739.4(POMGNT1):c.794G>C (p.Arg265Pro)	rs386834010

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