ClinVar Miner

List of variants in gene TTN reported by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Gene type:
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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759 0.00008
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.31349-4A>T rs1029227575 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.32471-6C>T rs763361422 0.00002
NM_001267550.2(TTN):c.48312+3G>T rs368650224 0.00002
NM_001267550.2(TTN):c.92152+7T>G rs574211300 0.00002
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.36045G>A (p.Thr12015=) rs1209026573 0.00001
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys) rs397517582 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) rs794729367
NM_001267550.2(TTN):c.101665_101668del (p.Leu33888_Val33889insTer) rs2154136319
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter) rs1575283255
NM_001267550.2(TTN):c.103899_103903dup (p.Ala34635fs)
NM_001267550.2(TTN):c.11254+1G>C
NM_001267550.2(TTN):c.13174A>T (p.Arg4392Ter)
NM_001267550.2(TTN):c.14056del (p.Thr4686fs) rs869312104
NM_001267550.2(TTN):c.14089dup (p.Arg4697fs)
NM_001267550.2(TTN):c.14304C>T (p.Gly4768=)
NM_001267550.2(TTN):c.15496+1G>T rs397517481
NM_001267550.2(TTN):c.25921+6C>T
NM_001267550.2(TTN):c.31270G>T (p.Val10424Phe) rs1352290576
NM_001267550.2(TTN):c.31708_31711del (p.Glu10570fs)
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs) rs2092847994
NM_001267550.2(TTN):c.36365-1G>A rs577672565
NM_001267550.2(TTN):c.37193del (p.Pro12398fs)
NM_001267550.2(TTN):c.37370-1G>A
NM_001267550.2(TTN):c.38424del (p.Lys12809fs) rs1553775991
NM_001267550.2(TTN):c.38809del (p.Glu12937fs)
NM_001267550.2(TTN):c.39817+1G>C rs959064823
NM_001267550.2(TTN):c.40091dup (p.Glu13365fs)
NM_001267550.2(TTN):c.40633+5G>T
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.43727_43728del (p.Glu14576fs) rs794729316
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter) rs770767998
NM_001267550.2(TTN):c.45932T>C (p.Ile15311Thr)
NM_001267550.2(TTN):c.46909A>C (p.Ile15637Leu)
NM_001267550.2(TTN):c.47142_47143del (p.Cys15714_Glu15715delinsTer) rs869312107
NM_001267550.2(TTN):c.47802_47803dup (p.Ser15935fs)
NM_001267550.2(TTN):c.47875+1G>A rs869312047
NM_001267550.2(TTN):c.49997dup (p.Asn16666fs)
NM_001267550.2(TTN):c.50110_50111del (p.Thr16704fs)
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.50353A>T (p.Arg16785Ter)
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.54112del (p.Glu18038fs) rs794729325
NM_001267550.2(TTN):c.57718C>T (p.Arg19240Ter) rs2051361827
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.60407_60410dup (p.Ile20138fs)
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64245G>A (p.Trp21415Ter)
NM_001267550.2(TTN):c.68641C>T (p.Arg22881Ter) rs1213930919
NM_001267550.2(TTN):c.70946ACA[1] (p.Asn23650del) rs794729336
NM_001267550.2(TTN):c.75020G>A (p.Cys25007Tyr)
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.76802C>A (p.Thr25601Lys)
NM_001267550.2(TTN):c.77365dup (p.Ile25789fs)
NM_001267550.2(TTN):c.78340_78349del (p.Tyr26114fs)
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.7946A>G (p.Lys2649Arg) rs745433704
NM_001267550.2(TTN):c.80922del (p.Pro26975fs)
NM_001267550.2(TTN):c.83861dup (p.Ile27955fs)
NM_001267550.2(TTN):c.84586_84589del (p.Arg28196fs) rs1703664543
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.86190_86191insTAAAAAAAAAG (p.Val28731Ter)
NM_001267550.2(TTN):c.86424_86425del (p.Ser28809fs)
NM_001267550.2(TTN):c.86727dup (p.Gln28910fs)
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.87814del (p.Tyr29272fs)
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89144dup (p.Gln29716fs)
NM_001267550.2(TTN):c.90085del (p.Glu30029fs)
NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) rs1559192617
NM_001267550.2(TTN):c.92248_92260del (p.Glu30750fs)
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.99289T>C (p.Ser33097Pro)

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