ClinVar Miner

List of variants reported as risk factor for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000007.14:g.22727026C>G rs1800795 0.70949
NM_152709.5(STOX1):c.457T>C (p.Tyr153His) rs1341667 0.57159
NM_005114.4(HS3ST1):c.-108-6848A>G rs16881446 0.26978
NM_003665.4(FCN3):c.658+250C>A rs4494157 0.24877
NC_000023.11:g.129736814C>A rs3788853 0.21748
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) rs34231037 0.02299
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_002471.4(MYH6):c.2161C>T (p.Arg721Trp) rs387906656 0.00002
NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp) rs2065470015 0.00002
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563 0.00001
NM_001256071.3(RNF213):c.2743C>T (p.Arg915Ter) rs750596095 0.00001
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr) rs119475040 0.00001
NC_012920.1(MT-ND6):m.14502T>C rs201327354
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg) rs1553508473
NM_001818.5(AKR1C4):c.85-106G>T rs398122815
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp) rs1057519906
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys) rs121913503
NM_002168.4(IDH2):c.515G>T (p.Arg172Met) rs121913503
NM_002168.4(IDH2):c.516G>C (p.Arg172Ser) rs1057519736
NM_005902.4(SMAD3):c.715G>T (p.Glu239Ter) rs387906853
NM_006885.4(ZFHX3):c.-49-37081= rs12931021
NM_032834.4(ALG10):c.1339G>A (p.Val447Ile) rs121908850
NM_130797.4(DPP6):c.244-141059C>T rs606231226

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.