ClinVar Miner

List of variants reported as benign by Department of Cardiology, Chinese Academy of Medical Sciences, Fuwai Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001562.4(IL18):c.-8-919T>C rs360722 0.81651
NM_139027.6(ADAMTS13):c.3910-342A>G rs4962153 0.79091
NM_014272.5(ADAMTS7):c.744A>G (p.Val248=) rs3743057 0.75765
NM_014272.5(ADAMTS7):c.100+3925C>T rs922693 0.70292
NM_139027.6(ADAMTS13):c.2731+77G>A rs652600 0.66100
NM_020469.3(ABO):c.28+1929G>C rs500499 0.47127
NM_139027.6(ADAMTS13):c.2731+739G>T rs671410 0.44413
NM_020469.3(ABO):c.373+163T>C rs2073824 0.39603
NM_020469.3(ABO):c.373+446A>G rs8176731 0.39437
NM_000442.5(PECAM1):c.2008A>G (p.Arg670Gly) rs1131012 0.37733
NM_000442.5(PECAM1):c.1688G>A (p.Ser563Asn) rs12953 0.37617
NM_001562.4(IL18):c.361-1974C>T rs5744280 0.34051
NM_020469.3(ABO):c.29-6479T>A rs8176668 0.33565
NM_014272.5(ADAMTS7):c.640T>C (p.Ser214Pro) rs3825807 0.32795
NM_014272.5(ADAMTS7):c.1322+1499C>T rs11072806 0.32116
NC_000009.12:g.22003224C>T rs3217992 0.31453
NM_139027.6(ADAMTS13):c.1436-186T>C rs3780809 0.31440
NM_001562.4(IL18):c.105A>C (p.Ser35=) rs549908 0.27313
NM_020469.3(ABO):c.646T>A (p.Phe216Ile) rs8176740 0.25075
NM_004936.4(CDKN2B):c.157-102G>A rs974336 0.14452
NM_020469.3(ABO):c.803G>C (p.Gly268Ala) rs8176747 0.11050
NM_020469.3(ABO):c.203+102C>A rs8176707 0.07289
NM_014272.5(ADAMTS7):c.101-872A>G rs4887112 0.02680
NM_000442.5(PECAM1):c.373G>C (p.Val125Leu) rs281865545
NM_020469.3(ABO):c.29-4774=

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.