ClinVar Miner

Variants with conflicting interpretations "uncertain significance" and "protective"

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

Total variants with conflicting interpretations: 5

HGVS dbSNP gnomAD frequency
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
Single allele

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