ClinVar Miner

List of variants reported as uncertain significance for cardiac rhythm disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006073.4(TRDN):c.1367A>G (p.Gln456Arg) rs200243235 0.00128
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299 0.00076
NM_006073.4(TRDN):c.1895G>A (p.Arg632Lys) rs181571822 0.00044
NM_017636.4(TRPM4):c.1409A>G (p.Asn470Ser) rs746075675 0.00019
NM_017636.4(TRPM4):c.2774A>C (p.Lys925Thr) rs752778561 0.00019
NM_002234.4(KCNA5):c.1327A>G (p.Ile443Val) rs370591031 0.00010
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg) rs755408841 0.00008
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr) rs369198088 0.00006
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val) rs915231524 0.00003
NM_006073.4(TRDN):c.1990G>A (p.Val664Ile) rs756257644 0.00002
NM_006073.4(TRDN):c.284C>T (p.Ala95Val) rs764770921 0.00001
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val) rs72703607
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_006073.4(TRDN):c.1630G>A (p.Asp544Asn) rs1777254669
NM_017636.4(TRPM4):c.169G>C (p.Val57Leu) rs750590052

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.