ClinVar Miner

List of variants in gene TTN reported as likely pathogenic for TTN-related disorder

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Gene type:
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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001267550.2(TTN):c.107628del (p.Asn35876fs) rs766624923 0.00002
NM_001267550.2(TTN):c.34855+1G>A rs377319699 0.00002
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter) rs1441434215 0.00001
NM_001267550.2(TTN):c.38737G>T (p.Glu12913Ter) rs767120669 0.00001
NM_001267550.2(TTN):c.79882C>T (p.Arg26628Ter) rs1373472758 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.89220_89221insT (p.Ile29741fs) rs1064794472 0.00001
NM_001267550.2(TTN):c.100791_100792insGTGTACCTAAA (p.Thr33598fs) rs1691180795
NM_001267550.2(TTN):c.104861_104876del (p.Pro34954fs) rs1402952523
NM_001267550.2(TTN):c.107644del (p.Ser35882fs) rs1179955071
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12523C>T (p.Gln4175Ter)
NM_001267550.2(TTN):c.13864dup (p.Ile4622fs)
NM_001267550.2(TTN):c.15691C>T (p.Gln5231Ter)
NM_001267550.2(TTN):c.16621_16621+45del
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs) rs1211248610
NM_001267550.2(TTN):c.25639+2T>C rs769452066
NM_001267550.2(TTN):c.30704_30707del (p.Lys10235fs)
NM_001267550.2(TTN):c.30754+1G>A
NM_001267550.2(TTN):c.34251_34276delinsG (p.Leu11418fs) rs2154268608
NM_001267550.2(TTN):c.36365-1G>A rs577672565
NM_001267550.2(TTN):c.37605_37606del (p.Lys12535fs)
NM_001267550.2(TTN):c.38409del (p.Glu12804fs) rs1470726150
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.41483del (p.Pro13828fs) rs876657664
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.49346-1G>A rs869312070
NM_001267550.2(TTN):c.51667C>T (p.Arg17223Ter) rs748956593
NM_001267550.2(TTN):c.51786del (p.Asp17263fs)
NM_001267550.2(TTN):c.55161_55164dup (p.Val18389fs)
NM_001267550.2(TTN):c.56347+1G>A rs1576251664
NM_001267550.2(TTN):c.59205del (p.Glu19735fs) rs397517643
NM_001267550.2(TTN):c.60447T>G (p.Tyr20149Ter) rs1553644047
NM_001267550.2(TTN):c.61977del (p.Ile20660fs) rs2154183984
NM_001267550.2(TTN):c.64673-2A>G rs2154180194
NM_001267550.2(TTN):c.6508+1G>A
NM_001267550.2(TTN):c.65437C>T (p.Gln21813Ter) rs1575960580
NM_001267550.2(TTN):c.65802_65803del (p.Thr21935fs) rs2154178644
NM_001267550.2(TTN):c.66685del (p.Gln22229fs)
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs) rs1476017129
NM_001267550.2(TTN):c.69106del (p.Thr23036fs)
NM_001267550.2(TTN):c.70915_70918del (p.Tyr23639fs)
NM_001267550.2(TTN):c.71321G>A (p.Trp23774Ter) rs727503567
NM_001267550.2(TTN):c.71747C>G (p.Ser23916Ter)
NM_001267550.2(TTN):c.72826dup (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.7495A>T (p.Lys2499Ter)
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter) rs727503688
NM_001267550.2(TTN):c.78728_78731del (p.Lys26243fs)
NM_001267550.2(TTN):c.78797del (p.Ile26265_Leu26266insTer)
NM_001267550.2(TTN):c.79673del (p.Glu26558fs)
NM_001267550.2(TTN):c.80403G>A (p.Trp26801Ter)
NM_001267550.2(TTN):c.81601A>T (p.Lys27201Ter)
NM_001267550.2(TTN):c.82562dup (p.Lys27522fs)
NM_001267550.2(TTN):c.82909A>T (p.Lys27637Ter)
NM_001267550.2(TTN):c.82912_82915del (p.Glu27638fs)
NM_001267550.2(TTN):c.85267C>T (p.Arg28423Ter) rs769664554
NM_001267550.2(TTN):c.86474T>G (p.Leu28825Ter) rs794729297
NM_001267550.2(TTN):c.91326del (p.Lys30442fs)
NM_001267550.2(TTN):c.92569_92570del (p.Ile30857fs) rs2154147864
NM_001267550.2(TTN):c.9372dup (p.Gly3125fs)
NM_001267550.2(TTN):c.95008C>T (p.Arg31670Ter) rs1322596650
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.97114dup (p.Arg32372fs) rs1064793419
NM_001267550.2(TTN):c.97451_97452del (p.Ser32484fs) rs878854433
NM_001267550.2(TTN):c.97972C>T (p.Arg32658Ter)
NM_001267550.2(TTN):c.98077_98080del (p.Val32693fs)
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99063del (p.Lys33021fs) rs1445687820
NM_001267550.2(TTN):c.99381del (p.Arg33127fs)

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