List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg)	rs146422285	0.00031
NM_001077525.3(MTMR14):c.1790G>A (p.Arg597Gln)	rs757795544	0.00002
NM_001267550.2(TTN):c.86009T>C (p.Ile28670Thr)	rs1703105655	0.00001
NM_002693.3(POLG):c.3211C>T (p.Arg1071Cys)	rs762593265	0.00001
NM_201384.3(PLEC):c.6325C>T (p.Arg2109Trp)	rs782507277	0.00001
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)	rs1281729528
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
NM_000252.3(MTM1):c.821T>G (p.Leu274Arg)	rs2148493317
NM_201384.3(PLEC):c.119G>A (p.Arg40Gln)

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