ClinVar Miner

Variants with conflicting interpretations "benign" from Preventiongenetics, part of Exact Sciences and "other" from any submitter

Minimum review status of the submission from Preventiongenetics, part of Exact Sciences: Collection method of the submission from Preventiongenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
UGT1A1*28 rs3064744

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.