ClinVar Miner

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

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

Total variants with conflicting interpretations: 4

HGVS dbSNP gnomAD frequency
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000875.5(IGF1R):c.361G>A (p.Glu121Lys) rs1555434208
NM_000875.5(IGF1R):c.413G>A (p.Arg138Gln) rs121912426
Single allele

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