List of variants reported as benign for hereditary skeletal muscle disorder by Pars Genome Lab

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.312T>G (p.Leu104=)	rs1800351	0.47318
NM_000232.5(SGCB):c.244-21T>C	rs225170	0.43577
NM_000231.3(SGCG):c.228T>C (p.Asp76=)	rs1800350	0.15152
NM_000231.3(SGCG):c.297+63A>C	rs4769246	0.14951
NM_000231.3(SGCG):c.386-30A>G	rs66844808	0.10864
NM_000231.3(SGCG):c.347G>A (p.Arg116His)	rs17314986	0.09986
NM_000231.3(SGCG):c.505+83G>T	rs17374896	0.08156
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp)	rs1800278	0.02976
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val)	rs41305353	0.02876
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)	rs34532796	0.00550
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)	rs1800281	0.00486
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=)	rs34718443	0.00165

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