ClinVar Miner

Variants with conflicting interpretations "association" and "uncertain significance"

Submission 1 (association) minimum review status: Submission 1 (association) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
ClinVar version:

Total variants with conflicting interpretations: 10

HGVS dbSNP
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_001005735.1(CHEK2):c.1214G>A (p.Cys405Tyr) rs767306337
NM_002108.3(HAL):c.1287+2T>C rs141634423
NM_015100.3(POGZ):c.1426C>T (p.Arg476Trp) rs267598016
NM_015100.3(POGZ):c.3607G>A (p.Glu1203Lys)
NM_015100.3(POGZ):c.757C>T (p.Pro253Ser)
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147

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.