List of variants reported as uncertain significance for hereditary skeletal muscle disorder by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)	rs35130237	0.00056
NM_001164508.2(NEB):c.19325G>A (p.Arg6442Gln)	rs375182306	0.00002
NM_007078.3(LDB3):c.47G>A (p.Arg16His)	rs767986134	0.00002
NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr)	rs137927542	0.00001
NM_000426.4(LAMA2):c.442C>T (p.Arg148Trp)	rs752485547	0.00001
NM_021942.6(TRAPPC11):c.161A>G (p.Lys54Arg)	rs1734710360
NM_021942.6(TRAPPC11):c.2234C>T (p.Thr745Ile)	rs768000138
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr)	rs2122620422

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