ClinVar Miner

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

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

Total variants with conflicting interpretations: 7

HGVS dbSNP gnomAD frequency
NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile) rs5743618 0.50543
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01559
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00746
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
NM_000875.5(IGF1R):c.2216G>A (p.Arg739Gln) rs121912429 0.00002
Single allele

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