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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)	rs144636654	0.00112
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)	rs142404822	0.00098
NM_000023.4(SGCA):c.843C>A (p.Ala281=)	rs149487996	0.00080
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)	rs141137410	0.00046
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)	rs115407852	0.00019
NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)	rs35194393	0.00014
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser)	rs187054121	0.00011
NM_004006.3(DMD):c.-75G>A	rs778938887	0.00009
NM_001164508.2(NEB):c.23840T>G (p.Leu7947Trp)	rs200559481	0.00008
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr)	rs138857720	0.00006
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=)	rs769254776	0.00004
NM_000232.5(SGCB):c.667C>T (p.Arg223Cys)	rs570232197	0.00003
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser)	rs760529157	0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=)	rs200730202	0.00001
NM_000070.3(CAPN3):c.2380+2T>G	rs761935462
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)	rs200928985

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