ClinVar Miner

List of variants in gene TTN reported as pathogenic for Dilated cardiomyopathy 1G

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Total variants: 13
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HGVS dbSNP
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter) rs267607158
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val) rs267607157
NM_001267550.2(TTN):c.29092_29093CT[1] (p.Phe9700fs) rs1553882262
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs) rs878854335
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
TTN, 2-BP INS, 43628AT

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