List of variants reported as pathogenic for hereditary skeletal muscle disorder by Institute of Human Genetics, Cologne University

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	rs769827124	0.00001
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)	rs1555420475
NM_000257.4(MYH7):c.5655+5G>A	rs1595070689
NM_001100.4(ACTA1):c.493G>C (p.Val165Leu)	rs121909522
NM_001267550.2(TTN):c.105520del (p.Arg35174fs)	rs1688921542
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)	rs121912939
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)	rs796052093

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