ClinVar Miner

List of variants in gene TPM1 studied for Primary familial hypertrophic cardiomyopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691
NM_001018005.2(TPM1):c.115-261C>T rs746952638
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503
NM_001018005.2(TPM1):c.563+267G>A rs141757680
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.746T>G (p.Leu249Trp) rs786204412
NM_001018005.2(TPM1):c.772+94_772+99delinsTT rs397515630
NM_001018005.2(TPM1):c.77A>G (p.Glu26Gly) rs730880234
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321

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.