ClinVar Miner

Variants with conflicting interpretations "benign" and "protective"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (protective) minimum review status: Submission 2 (protective) method:
ClinVar version:

Total variants with conflicting interpretations: 17

HGVS dbSNP gnomAD frequency
NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile) rs5743618 0.50543
NM_000416.3(IFNGR1):c.-56T>C rs2234711 0.42896
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_000133.4(F9):c.580A>G (p.Thr194Ala) rs6048 0.22614
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_178135.5(HSD17B13):c.812+2dup rs72613567 0.19453
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) rs8177374 0.10979
NM_004137.4(KCNMB1):c.193G>A (p.Glu65Lys) rs11739136 0.08717
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_003049.4(SLC10A1):c.800C>T (p.Ser267Phe) rs2296651 0.00251
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_152291.3(MUC7):c.710_778del (p.Ala237_Ala259del) rs1560560839
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.