List of variants reported as uncertain significance for hereditary skeletal muscle disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)	rs35130237	0.00056
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)	rs540292629	0.00026
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)	rs116214830	0.00025
NM_198721.4(COL25A1):c.130G>A (p.Val44Met)	rs201162812	0.00014
NM_000232.5(SGCB):c.152G>A (p.Arg51His)	rs143751283	0.00010
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)	rs201329880	0.00008
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr)	rs375911119	0.00008
NM_000231.3(SGCG):c.824C>T (p.Ser275Phe)	rs780747031	0.00005
NM_000232.5(SGCB):c.850C>T (p.Arg284Cys)	rs545065102	0.00002
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys)	rs191040430	0.00001
NM_001036.6(RYR3):c.161C>T (p.Ser54Leu)	rs372207437	0.00001
NM_000252.3(MTM1):c.1184G>A (p.Ser395Asn)	rs2040151430
NM_001036.6(RYR3):c.4006G>C (p.Ala1336Pro)

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