ClinVar Miner

Variants with conflicting interpretations "benign" from OMIM and "uncertain significance" from any submitter

Minimum review status of the submission from OMIM: Collection method of the submission from OMIM:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_138554.5(TLR4):c.896A>G (p.Asp299Gly) rs4986790 0.06665
NM_001142446.2(ANK1):c.127-39509T>C rs77173848 0.04675
NM_012084.4(GLUD2):c.1492T>G (p.Ser498Ala) rs9697983 0.03160
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_000410.4(HFE):c.175G>A (p.Val59Met) rs111033557 0.00004
NM_000212.3(ITGB3):c.1297C>G (p.Pro433Ala) rs121918448 0.00003
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278 0.00002
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
Multiple alleles
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886

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.