List of variants reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2C by Revvity Omics, Revvity

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)	rs547818652	0.00001
NM_000231.3(SGCG):c.361G>T (p.Glu121Ter)
NM_000231.3(SGCG):c.369dup (p.Gly124fs)
NM_000231.3(SGCG):c.385+2T>G	rs200206447
NM_000231.3(SGCG):c.386-2A>G	rs886042757
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)	rs1881865054
NM_000231.3(SGCG):c.575T>G (p.Leu192Arg)	rs1555245351
NM_000231.3(SGCG):c.684del (p.His229fs)	rs2137528312
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg)	rs875989949

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