ClinVar Miner

List of variants in gene TTN reported as uncertain significance by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_001267550.2(TTN):c.25147A>G (p.Ile8383Val) rs886038829 0.00001
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln) rs775513269 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.90246A>G (p.Ile30082Met) rs886038812 0.00001
NM_001267550.2(TTN):c.107292A>G (p.Ala35764=) rs1553479171
NM_001267550.2(TTN):c.13525del (p.Ser4509fs) rs1553936898
NM_001267550.2(TTN):c.14402dup (p.Pro4801_Lys4802insTer) rs876661397
NM_001267550.2(TTN):c.30899A>G (p.Tyr10300Cys) rs1553864504
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.42278A>G (p.Lys14093Arg) rs1553743733
NM_001267550.2(TTN):c.43727_43728del (p.Glu14576fs) rs794729316
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.46399dup (p.Arg15467fs) rs1060500443
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.79881dup (p.Arg26628fs) rs876661400
NM_001267550.2(TTN):c.85439del (p.Gly28480fs) rs876661401
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815

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