List of variants reported as uncertain significance for hereditary skeletal muscle disorder by ClinGen Limb Girdle Muscular Dystrophy Variant Curation Expert Panel, ClinGen

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)	rs376780156	0.00011
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)	rs202223676	0.00002
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00001
NM_213599.3(ANO5):c.139-1del	rs868484837	0.00001
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)	rs1487379783
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter)	rs376410504
NM_000232.5(SGCB):c.199_210del (p.Cys67_Ile70del)	rs886042890
NM_000337.6(SGCD):c.91C>G (p.Arg31Gly)	rs202223676
NM_213599.3(ANO5):c.648+5G>C	rs752512585

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