ClinVar Miner

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

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

Total variants with conflicting interpretations: 4

HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys) rs1555434208
Single allele

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