ClinVar Miner

Variants with conflicting interpretations "risk factor" from OMIM and "drug response" 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: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000777.5(CYP3A5):c.219-237A>G rs776746 0.72319
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_004117.4(FKBP5):c.106-2636= rs1360780 0.32933
NM_000745.4(CHRNA5):c.1192G>A (p.Asp398Asn) rs16969968 0.24062
NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp) rs4961 0.16268
NM_000594.3(TNF):c.-488G>A rs1800629 0.14163
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000690.4(ALDH2):c.1510G>A (p.Glu504Lys) rs671 0.00596
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His) rs1800559
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596

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.