ClinVar Miner

Variants with conflicting interpretations "protective" and "likely benign"

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

Total variants with conflicting interpretations: 10

HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40957
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_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
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.751A>C (p.Ile251Leu) rs52820871 0.00746
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
Single allele

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