List of variants reported as pathogenic for hereditary skeletal muscle disorder by Institute of Immunology and Genetics Kaiserslautern

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)	rs2754158	0.00003
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)	rs757082154	0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	rs397517889	0.00001
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)	rs1555420634
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs)	rs1559296376
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs)	rs886039027
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter)	rs1553636324
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)	rs886038916
NM_001927.4(DES):c.735+1G>C	rs397516698
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521

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