ClinVar Miner

Variants with conflicting interpretations "drug response" from PharmGKB and "benign" from any submitter

Minimum review status of the submission from PharmGKB: Collection method of the submission from PharmGKB:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP gnomAD frequency
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) rs25487 0.71503
NM_024006.6(VKORC1):c.283+837T>C rs2359612 0.65429
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) rs1051266 0.51413
NM_001276254.2(IFNL4):c.151-152G>A rs12979860 0.37827
NM_024006.6(VKORC1):c.174-136C>T rs9934438 0.31147
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) rs1801265 0.27966
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_004044.7(ATIC):c.1503+675T>C rs4673993 0.25749
NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) rs2108622 0.22058
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NC_000019.10:g.39252525T>G rs8099917 0.15536
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_033453.4(ITPA):c.124+21A>C rs7270101 0.09874
NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) rs2231142 0.09384
NM_000110.4(DPYD):c.496A>G (p.Met166Val) rs2297595 0.08071
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) rs1127354 0.06104
NM_000110.4(DPYD):c.1896T>C (p.Phe632=) rs17376848 0.04278
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_000767.5(CYP2B6):c.983T>C (p.Ile328Thr) rs28399499 0.02197
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01297
NM_000110.4(DPYD):c.1129-5923C>G rs75017182 0.01296
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245 0.00150
NM_001430.5(EPAS1):c.1035-7C>G rs7557402

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