ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for Limb-girdle muscular dystrophy, type 2J

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Total variants: 37
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HGVS dbSNP
NM_001256850.1(TTN):c.100831C>T (p.Arg33611Ter) rs886043924
NM_001256850.1(TTN):c.56953C>T (p.Arg18985Ter) rs72646846
NM_001256850.1(TTN):c.59757dupC (p.Gly19920Argfs) rs794729330
NM_001256850.1(TTN):c.62425+1G>A rs758279518
NM_001256850.1(TTN):c.74239G>T (p.Gly24747Ter) rs763822931
NM_001256850.1(TTN):c.77113C>T (p.Gln25705Ter) rs886042331
NM_001267550.1(TTN):c.102956_102958del rs878854378
NM_001267550.2(TTN):c.101098_101099insT (p.Asp33700Valfs) rs869312122
NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter) rs1060500471
NM_001267550.2(TTN):c.103360delG (p.Glu34454Asnfs) rs760768093
NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter) rs1060500505
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184
NM_001267550.2(TTN):c.104399delG (p.Arg34800Lysfs) rs747662439
NM_001267550.2(TTN):c.104413C>T (p.Arg34805Ter) rs750519430
NM_001267550.2(TTN):c.106531+1G>A
NM_001267550.2(TTN):c.107163_107167delTACTT (p.Phe35721Leufs) rs794727544
NM_001267550.2(TTN):c.107460_107463dupAGTC (p.Gln35822Serfs) rs886042246
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter)
NM_001267550.2(TTN):c.49336dupT (p.Tyr16446Leufs) rs797044683
NM_001267550.2(TTN):c.51459_51462delTGTA (p.Asp17153Glufs) rs886043718
NM_001267550.2(TTN):c.51883_51892delAAGCGTGCAG (p.Lys17295Hisfs) rs886042414
NM_001267550.2(TTN):c.53995G>T (p.Glu17999Ter) rs794727387
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.56294delC (p.Thr18765Lysfs) rs886044096
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.78197dupA (p.Tyr26066Terfs) rs1553596594
NM_001267550.2(TTN):c.82544_82545insTTAG (p.Arg27515Serfs) rs797044697
NM_001267550.2(TTN):c.87019_87022del (p.Glu29007Ilefs)
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.88979_88985delATGGCGG (p.Asp29660Valfs) rs794727468
NM_001267550.2(TTN):c.90561delT (p.Thr30188Leufs) rs886044318
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99920_99921insTC (p.Ala33308Profs) rs886043854
NM_001267550.2(TTN):c.[32471-1G>A];[55732+5G>C]
NM_133378.4(TTN):c.96872G>A (p.Arg32291Gln) rs68080670
Single allele

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