ClinVar Miner

Variants with conflicting interpretations "drug response" and "other"

Submission 1 (drug response) minimum review status: Submission 1 (drug response) method:
Submission 2 (other) minimum review status: Submission 2 (other) method:

Total variants with conflicting interpretations: 23

HGVS dbSNP gnomAD frequency
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31727
NM_000769.1(CYP2C19):c.-806C>T rs12248560 0.19962
CYP2D6*10 rs1065852 0.18675
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) rs4244285 0.16806
CYP2D6*4 rs3892097 0.14340
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
CYP2C9*2 rs1799853 0.08975
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
CYP2D6*41 rs28371725 0.06736
CYP2C9*3 rs1057910 0.04900
NM_000106.6(CYP2D6):c.775del (p.Arg259fs) rs35742686 0.01234
CYP2D6*6 rs5030655 0.00862
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
CYP2C9*5 rs28371686 0.00324
NM_000769.1(CYP2C19):c.358T>C (p.Trp120Arg) rs41291556 0.00159
NM_000769.1(CYP2C19):c.1A>G (p.Met1Val) rs28399504 0.00156
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) rs4986893 0.00149
NM_000769.1(CYP2C19):c.1297C>T (p.Arg433Trp) rs56337013 0.00001
CYP2C9*6 rs9332131
CYP2D6*17
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.6(CYP2D6):c.841_843del (p.Lys281del) rs5030656
UGT1A1*28 rs3064744

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