ClinVar Miner

List of variants in gene COMT, TXNRD2 studied for cardiomyopathy

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr) rs749057584 0.00016
NC_000022.10:g.(?_19862041)_(19930515_?)dup
NC_000022.10:g.(?_19929214)_(19929336_?)dup
NC_000022.11:g.(?_19877095)_(19941813_?)del
NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr) rs1429174414
NM_006440.5(TXNRD2):c.14C>G (p.Ala5Gly)
NM_006440.5(TXNRD2):c.14C>T (p.Ala5Val) rs775392322
NM_006440.5(TXNRD2):c.1A>G (p.Met1Val)
NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)
NM_006440.5(TXNRD2):c.21G>A (p.Ala7=) rs2146120385
NM_006440.5(TXNRD2):c.26G>C (p.Arg9Pro)
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala) rs1159919237
NM_006440.5(TXNRD2):c.6G>C (p.Ala2=)
NM_006440.5(TXNRD2):c.6G>T (p.Ala2=) rs1601501125
NM_006440.5(TXNRD2):c.8C>T (p.Ala3Val)

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.