ClinVar Miner

List of variants in gene TTN reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00029
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_001267550.2(TTN):c.30395A>G (p.His10132Arg) rs1057518758 0.00003
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.63709A>G (p.Thr21237Ala) rs766847414 0.00001
NM_001267550.2(TTN):c.78989G>A (p.Ser26330Asn) rs1427996263 0.00001
NM_001267550.2(TTN):c.11444A>C (p.Lys3815Thr) rs1184657184
NM_001267550.2(TTN):c.12614T>C (p.Leu4205Ser) rs1057518931
NM_001267550.2(TTN):c.16212G>C (p.Arg5404Ser) rs758704167
NM_001267550.2(TTN):c.18055_18056del (p.Gln6019fs) rs2080219754
NM_001267550.2(TTN):c.27152G>C (p.Ser9051Thr) rs2076871733
NM_001267550.2(TTN):c.27328+19C>G rs974890499
NM_001267550.2(TTN):c.27709T>C (p.Ser9237Pro) rs766638714
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.52102+5G>A rs886042399
NM_001267550.2(TTN):c.68824+1G>A rs112484439
NM_001267550.2(TTN):c.8894C>A (p.Thr2965Lys) rs1221486073
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser) rs1693772565

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