List of variants reported as pathogenic for hereditary skeletal muscle disorder by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_007126.5(VCP):c.572G>A (p.Arg191Gln)	rs121909334	0.00002
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter)	rs1057522256	0.00001
NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs)	rs1553882262
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs)	rs794729343
NM_001267550.2(TTN):c.98633dup (p.Ser32879fs)
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	rs199476146
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)	rs761071115

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