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

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)	rs376107921	0.00013
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)	rs758647756	0.00002
NM_000023.4(SGCA):c.101G>A (p.Arg34His)	rs371675217	0.00001
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)	rs760608643	0.00001
NM_000023.4(SGCA):c.957-11C>G	rs1391089933	0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)	rs139836397	0.00001
NM_000070.3(CAPN3):c.363C>G (p.Ile121Met)	rs901764287	0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn)	rs779701414	0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met)	rs762652676	0.00001
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)	rs398123098
NM_000023.4(SGCA):c.662G>C (p.Arg221Pro)	rs138254713
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly)	rs886042895
NM_000070.3(CAPN3):c.219del (p.Leu74fs)	rs2141102673
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro)	rs781760379
NM_000231.3(SGCG):c.525del (p.Phe175fs)	rs786204786
NM_000231.3(SGCG):c.703-1G>C	rs1883152345
NM_000232.5(SGCB):c.699_702del (p.Phe233fs)	rs1057516515
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del)	rs794727350

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