ClinVar Miner

List of variants in gene TTN reported as likely pathogenic by Genetics and Genomics Program, Sidra Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.40608del (p.Lys13536fs) rs1284446305
NM_001267550.2(TTN):c.54327del (p.Lys18110fs) rs2054381012
NM_001267550.2(TTN):c.73828_73835del (p.Val24611fs) rs1708504899
NM_001267550.2(TTN):c.91097_91100del (p.Arg30366fs) rs769422187

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