ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Pathology and Laboratory Medicine, Sinai Health System and "risk factor" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589 0.00063

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