ClinVar Miner

Variants with conflicting interpretations "protective" and "benign"

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

Total variants with conflicting interpretations: 20

HGVS dbSNP gnomAD frequency
NC_000001.11:g.206773062T>G rs1800872 0.69428
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_005214.5(CTLA4):c.*1148+236G>A rs3087243 0.36123
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
NC_012920.1(MT-ND3):m.10398A>G rs2853826
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
NM_152291.3(MUC7):c.710_778del (p.Ala237_Ala259del) rs1560560839
Single allele

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