List of variants reported as pathogenic for hereditary skeletal muscle disorder by KTest Genetics, KTest

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter)	rs1250461669	0.00001
NM_001267550.2(TTN):c.104974_104995dup (p.Leu34999fs)	rs2154133662
NM_001267550.2(TTN):c.3073dup (p.Ser1025fs)	rs2154350008
NM_001267550.2(TTN):c.41608+1G>T	rs2154230056
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter)	rs2060187635
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter)	rs775186117
NM_001267550.2(TTN):c.49669A>T (p.Lys16557Ter)	rs2154200779
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)	rs794729323
NM_001267550.2(TTN):c.54809del (p.Ile18270fs)	rs2154194604
NM_001267550.2(TTN):c.58240_58244del (p.Pro19414fs)	rs2154187022
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter)	rs1553649171
NM_001267550.2(TTN):c.59926+1G>A	rs553526525
NM_001267550.2(TTN):c.67637-1G>C	rs886038831
NM_001267550.2(TTN):c.68302A>T (p.Lys22768Ter)	rs2154174786
NM_001267550.2(TTN):c.81274C>T (p.Gln27092Ter)	rs2154163535
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)	rs794729384
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)	rs869312065
NM_001267550.2(TTN):c.94754T>G (p.Leu31585Ter)	rs2154146081

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