ClinVar Miner

List of variants in gene TTN reported as likely benign by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.78117G>A (p.Lys26039=) rs772900049 0.00003
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) rs766756026
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.65142C>G (p.Val21714=) rs1575973571
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815

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