List of variants studied for hereditary skeletal muscle disorder by GenomeConnect - Brain Gene Registry

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	rs113994096	0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs11394094	0.00159
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro)	rs72646880	0.00151
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly)	rs550420394	0.00013
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu)	rs181517869	0.00007
NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln)	rs755835144	0.00001
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_000257.4(MYH7):c.3711G>C (p.Gln1237His)	rs1361182615
NM_001080449.3(DNA2):c.707T>C (p.Met236Thr)	rs759464271
NM_001267550.2(TTN):c.72390G>C (p.Leu24130Phe)	rs376664950
NM_004006.3(DMD):c.2273A>C (p.Asp758Ala)	rs750526692
NM_006086.4(TUBB3):c.166+4A>C
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)	rs587784505
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser)	rs1131691895
NM_006086.4(TUBB3):c.508G>A (p.Val170Met)	rs1344725531

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