ClinVar Miner

List of variants in gene TTN reported as pathogenic for Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J

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Total variants: 32
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HGVS dbSNP
NM_001256850.1(TTN):c.39893-1G>A rs749705939
NM_001256850.1(TTN):c.44725+2delT rs727504851
NM_001256850.1(TTN):c.81898+2T>A rs397517735
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.107377+1G>A rs112188483
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.59926+1G>A
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846
NM_001267550.2(TTN):c.66769+2T>A rs1060500483
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter) rs1553612386
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter) rs1060500586
NM_001267550.2(TTN):c.90255_90256del (p.Thr30085_Cys30086insTer) rs773840992
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776

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