ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by Blueprint Genetics

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Gene type:
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Total variants: 65
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HGVS dbSNP
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.100411_100412del (p.Asn33471fs)
NM_001267550.2(TTN):c.10120A>T (p.Lys3374Ter) rs770029258
NM_001267550.2(TTN):c.101943C>G (p.Tyr33981Ter)
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103597_103598GA[1] (p.Arg34534fs) rs730880246
NM_001267550.2(TTN):c.104010C>A (p.Tyr34670Ter) rs751039219
NM_001267550.2(TTN):c.105186dup (p.Ala35063fs)
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.41383G>T (p.Gly13795Ter)
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405
NM_001267550.2(TTN):c.45896-2A>G rs869025548
NM_001267550.2(TTN):c.48863del (p.Pro16288fs) rs794729320
NM_001267550.2(TTN):c.49004dup (p.Asn16335fs)
NM_001267550.2(TTN):c.49171C>T (p.Arg16391Ter)
NM_001267550.2(TTN):c.49813del (p.Val16605fs) rs730880245
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.52242del (p.Asp17415fs)
NM_001267550.2(TTN):c.53432G>A (p.Trp17811Ter)
NM_001267550.2(TTN):c.54990dup (p.Thr18331fs) rs869025552
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.58259G>A (p.Trp19420Ter) rs869025544
NM_001267550.2(TTN):c.59201_59202del (p.Pro19734fs) rs752948913
NM_001267550.2(TTN):c.61339del (p.Arg20446_Ile20447insTer)
NM_001267550.2(TTN):c.62909dup (p.Glu20971fs) rs876657666
NM_001267550.2(TTN):c.64098del (p.Glu21366fs)
NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter) rs1432889079
NM_001267550.2(TTN):c.65576-2A>G rs869025549
NM_001267550.2(TTN):c.66975_66978del (p.Lys22326fs) rs587782986
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.67637-2A>G rs869025550
NM_001267550.2(TTN):c.68437G>T (p.Glu22813Ter) rs200797552
NM_001267550.2(TTN):c.69639dup (p.Val23214fs) rs869025557
NM_001267550.2(TTN):c.69783G>A (p.Trp23261Ter) rs730880241
NM_001267550.2(TTN):c.71500C>T (p.Gln23834Ter) rs730880242
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72227T>A (p.Leu24076Ter)
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.75314dup (p.Val25106fs) rs869025558
NM_001267550.2(TTN):c.76373del (p.Pro25458fs) rs869025553
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.80679del (p.Gly26894fs)
NM_001267550.2(TTN):c.83789_83790del (p.Glu27930fs) rs869025559
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577
NM_001267550.2(TTN):c.85640_85652del (p.Pro28547fs)
NM_001267550.2(TTN):c.85713G>A (p.Trp28571Ter)
NM_001267550.2(TTN):c.86642del (p.His28881fs)
NM_001267550.2(TTN):c.87316G>T (p.Glu29106Ter) rs730880243
NM_001267550.2(TTN):c.87849del (p.Leu29283fs) rs869025554
NM_001267550.2(TTN):c.88421G>A (p.Trp29474Ter) rs869025546
NM_001267550.2(TTN):c.88848_88864del (p.Ile29616_Gly29617insTer)
NM_001267550.2(TTN):c.89553del (p.Ala29853fs)
NM_001267550.2(TTN):c.89896_89899ATTA[1] (p.Asn29967fs) rs869312081
NM_001267550.2(TTN):c.90544A>T (p.Lys30182Ter)
NM_001267550.2(TTN):c.90562_90566del (p.Thr30188fs)
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.94249del (p.Val31417fs) rs869025555
NM_001267550.2(TTN):c.94667G>A (p.Trp31556Ter)
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter)
NM_001267550.2(TTN):c.95966del (p.Asn31989fs) rs72648265
NM_001267550.2(TTN):c.97551_97554ACTT[3] (p.Trp32520fs)
NM_133379.5(TTN):c.7057+2dup rs765019023

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