ClinVar Miner

Variants with conflicting interpretations "pathogenic" and "protective"

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

Total variants with conflicting interpretations: 5

HGVS dbSNP gnomAD frequency
NM_002036.3(ACKR1):c.-67T>C rs2814778 0.25719
NC_000017.11:g.58281401C>T rs2333227 0.24481
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01559
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
Single allele

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