List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2C by Baylor Genetics

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.-1+5G>A	rs1394135402	0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs)	rs1262459682	0.00001
NM_000231.3(SGCG):c.385+2T>C	rs200206447	0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs)	rs1484553312	0.00001
NM_000231.3(SGCG):c.579-1G>C	rs1883001175	0.00001
NM_000231.3(SGCG):c.10G>T (p.Glu4Ter)	rs2500524682
NM_000231.3(SGCG):c.186G>A (p.Trp62Ter)	rs1555234810
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)	rs1474297447
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)	rs2541900264
NM_000231.3(SGCG):c.298-2A>C	rs1555240119
NM_000231.3(SGCG):c.298-2A>G	rs1555240119
NM_000231.3(SGCG):c.310dup (p.Leu104fs)	rs2541936326
NM_000231.3(SGCG):c.385+1G>A	rs2541936716
NM_000231.3(SGCG):c.386-2A>C	rs886042757
NM_000231.3(SGCG):c.450_456del (p.Leu150_Phe151insTer)	rs2541997209
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)	rs1881865054
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter)	rs1011397929
NM_000231.3(SGCG):c.578+1G>C	rs1555245353
NM_000231.3(SGCG):c.579-1G>A	rs1883001175
NM_000231.3(SGCG):c.580_584del	rs1185360439
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter)	rs376410504
NM_000231.3(SGCG):c.684del (p.His229fs)	rs2137528312
NM_000231.3(SGCG):c.750dup (p.Thr251fs)	rs2542103069
NM_000231.3(SGCG):c.758dup (p.Pro254fs)	rs2542103135
NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)	rs759316719
NM_000231.3(SGCG):c.796del (p.Val266fs)	rs2542103387
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)	rs2137534216
NM_000231.3(SGCG):c.824_827del (p.Ser275fs)	rs1361450354
NM_000231.3(SGCG):c.85dup (p.Tyr29fs)	rs2137501342

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