ClinVar Miner

List of variants in gene TNNI3 reported as uncertain significance for cardiomyopathy, familial restrictive, 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-4C>G rs2288530 0.00007
NM_000363.5(TNNI3):c.139T>C (p.Leu47=) rs587780967 0.00006
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_000363.5(TNNI3):c.*44A>G rs1182120462 0.00004
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter) rs730881068 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000363.5(TNNI3):c.108+4G>T rs878853954 0.00003
NM_000363.5(TNNI3):c.151-6C>G rs377258542 0.00002
NM_000363.5(TNNI3):c.283-9C>T rs759922995 0.00002
NM_000363.5(TNNI3):c.439G>C (p.Val147Leu) rs777782551 0.00002
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met) rs201928445 0.00002
NM_000363.5(TNNI3):c.-45C>T rs1242688089 0.00001
NM_000363.5(TNNI3):c.108+2T>G rs1057520417 0.00001
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr) rs545441942 0.00001
NM_000363.5(TNNI3):c.550-11C>T rs886054635 0.00001
NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg) rs367672692 0.00001
NM_000363.5(TNNI3):c.104C>A (p.Ala35Asp) rs1190447904
NM_000363.5(TNNI3):c.104C>T (p.Ala35Val) rs1190447904
NM_000363.5(TNNI3):c.109-15A>G rs779144176
NM_000363.5(TNNI3):c.114dup (p.Ser39fs) rs772607683
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys) rs375795196
NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro) rs886039022
NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile) rs184709702
NM_000363.5(TNNI3):c.466C>G (p.Gln156Glu) rs2085712011
NM_000363.5(TNNI3):c.627G>C (p.Glu209Asp) rs1555862947

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.