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:
ClinVar version:

Total variants with conflicting interpretations: 17

CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met)
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr) rs147210663
NM_000040.3(APOC3):c.179+1G>T rs140621530
NM_000040.3(APOC3):c.55+1G>A rs138326449
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) rs76353203
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000418.4(IL4R):c.223A>G (p.Ile75Val) rs1805010
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000579.3(CCR5):c.-301+246A>G rs1799987
NM_002036.3(ACKR1):c.-67T>C rs2814778
NM_002101.4(GYPC):c.107_190del (p.Glu36_Ala63del) rs1553470034
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
Single allele

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