ClinVar Miner

List of variants reported as likely pathogenic for cardiomyopathy by Genetics and Genomics Program, Sidra Medicine

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_003365.3(UQCRC1):c.826C>T (p.Arg276Cys) rs201911056 0.00002
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs) rs2095879705
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs) rs1595850762
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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