ClinVar Miner

Variants with conflicting interpretations "other" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "pathogenic" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
Download table as spreadsheet
HGVS dbSNP
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000492.4(CFTR):c.1210-11T>G rs73715573
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926
NM_139011.3(HFE):c.77-2168C>G rs1799945
Single allele

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.