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

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		ClinVar version:

Total variants: 13

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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_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	rs775453643
NM_000540.3(RYR1):c.7856T>C (p.Leu2619Pro)	rs1263237391
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_001927.4(DES):c.1195G>T (p.Asp399Tyr)	rs61130669
NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	rs199476146
NM_006063.3(KLHL41):c.1531T>C (p.Ser511Pro)	rs1574352719
NM_006063.3(KLHL41):c.667C>A (p.Arg223Ser)	rs754460870
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter)	rs761071115
NM_152263.4(TPM3):c.43G>C (p.Asp15His)	rs1553251644

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