ClinVar Miner

Variants with conflicting interpretations "likely benign" from PreventionGenetics, part of Exact Sciences and "risk factor" 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: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526 0.04986
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_001039569.2(AP1S3):c.11T>G (p.Phe4Cys) rs116107386 0.00898
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988 0.00725
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_001571.6(IRF3):c.829G>A (p.Ala277Thr) rs143769046 0.00460
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) rs58599399 0.00373
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840 0.00272
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501 0.00218
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) rs104894696 0.00197
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr) rs11570351 0.00164
NM_145725.3(TRAF3):c.352C>T (p.Arg118Trp) rs143813189 0.00147
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010

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.