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

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)	rs104894423	0.00016
NM_000231.3(SGCG):c.195+1G>C	rs200502077	0.00004
NM_000231.3(SGCG):c.386-1G>A	rs913248720	0.00002
NM_000231.3(SGCG):c.579-2A>G	rs754415994	0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	rs547818652	0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs)	rs762777463	0.00001
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)	rs781760379
NM_000231.3(SGCG):c.195+4_195+7del	rs797045106
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer)	rs886042540
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)	rs1881219252
NM_000231.3(SGCG):c.525del (p.Phe175fs)	rs786204786
NM_000231.3(SGCG):c.549dup (p.Val184fs)	rs2137644772
NM_000231.3(SGCG):c.582dup (p.Glu195fs)
NM_000231.3(SGCG):c.702+1G>A	rs1555248000
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)	rs780348174
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)	rs104894422
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)

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