ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for Hereditary myopathy with early respiratory failure

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Total variants: 30
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HGVS dbSNP
GRCh37/hg19 2q31.2(chr2:179403525-179655493)
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.75927C>G (p.Tyr25309Ter) rs794729291
NM_001256850.1(TTN):c.76114C>T (p.Arg25372Ter) rs869038795
NM_001256850.1(TTN):c.77113C>T (p.Gln25705Ter) rs886042331
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184
NM_001267550.2(TTN):c.104399delG (p.Arg34800Lysfs) rs747662439
NM_001267550.2(TTN):c.107163_107167delTACTT (p.Phe35721Leufs) rs794727544
NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro)
NM_001267550.2(TTN):c.47629C>T (p.Gln15877Ter) rs886044009
NM_001267550.2(TTN):c.49336dupT (p.Tyr16446Leufs) rs797044683
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.60681dupT (p.Lys20228Terfs) rs797044692
NM_001267550.2(TTN):c.66160+2T>C rs753146898
NM_001267550.2(TTN):c.68885_68888dupATAC (p.Ile22964Tyrfs) rs757603460
NM_001267550.2(TTN):c.70754delT (p.Val23585Glyfs) rs886042441
NM_001267550.2(TTN):c.82544_82545insTTAG (p.Arg27515Serfs) rs797044697
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.91615_91616dup (p.Gly30541Profs)
NM_001267550.2(TTN):c.91798_91799insT (p.Glu30600Valfs) rs886042502
NM_001267550.2(TTN):c.99719C>G (p.Ser33240Ter) rs794727539
NM_001267550.2(TTN):c.99920_99921insTC (p.Ala33308Profs) rs886043854
Single allele

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