ClinVar Miner

Variants with conflicting interpretations "likely risk allele" and "benign"

Submission 1 (likely risk allele) minimum review status: Submission 1 (likely risk allele) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
ClinVar version:

Total variants with conflicting interpretations: 9

HGVS dbSNP gnomAD frequency
NM_001001331.4(ATP2B2):c.1437C>T (p.Asn479=) rs2289274 0.26684
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.11690
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_013254.4(TBK1):c.1839G>T (p.Leu613Phe) rs368859659 0.00003
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del) rs71785313

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.