ClinVar Miner

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

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

Total variants with conflicting interpretations: 7

HGVS dbSNP gnomAD frequency
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_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 0.00774
Single allele

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