ClinVar Miner

Variants with conflicting interpretations "drug response" and "likely benign"

Submission 1 (drug response) minimum review status: Submission 1 (drug response) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
ClinVar version:

Total variants with conflicting interpretations: 58

HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503 0.63165
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642 0.57896
NM_000106.6(CYP2D6):c.1457= (p.Ser486=) rs1135840 0.42305
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31157
NM_024006.6(VKORC1):c.174-136C>T rs9934438 0.31147
NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) rs3745274 0.28231
NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) rs2108622 0.22058
CYP2D6*10 rs1065852 0.18675
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) rs4244285 0.16148
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
NM_001348946.2(ABCB1):c.61A>G (p.Asn21Asp) rs9282564 0.07388
CYP2D6*41 rs28371725 0.06736
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) rs1127354 0.06104
NM_000106.6(CYP2D6):c.31G>A (p.Val11Met) rs769258 0.03995
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_000110.4(DPYD):c.1129-5923C>G rs75017182 0.01296
NM_000106.6(CYP2D6):c.775del (p.Arg259fs) rs35742686 0.01277
NM_001025195.2(CES1):c.431G>A (p.Gly144Glu) rs71647871 0.00998
NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys) rs116855232 0.00927
UGT1A1*6 rs4148323 0.00891
CYP2D6*6 rs5030655 0.00883
NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser) rs28371717 0.00827
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn) rs52815063 0.00800
CYP2C9*11 rs28371685 0.00738
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000914.5(OPRM1):c.575G>T (p.Cys192Phe) rs62638690 0.00573
NM_000769.1(CYP2C19):c.431G>A (p.Arg144His) rs17884712 0.00391
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
CYP2C9*5 rs28371686 0.00342
CYP2C19*11 rs58973490 0.00302
NM_001074.4(UGT2B7):c.137T>C (p.Leu46Pro) rs61361928 0.00284
NM_000914.5(OPRM1):c.-25C>T rs41292890 0.00226
NM_000769.1(CYP2C19):c.1A>G (p.Met1Val) rs28399504 0.00156
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245 0.00150
NM_000367.5(TPMT):c.420-4G>A rs56019966 0.00140
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_018283.4(NUDT15):c.52G>A (p.Val18Ile) rs186364861 0.00023
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
CYP2C9*6 rs9332131
CYP2C9*8 rs7900194
CYP2D6*17
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.6(CYP2D6):c.841_843del (p.Lys281del) rs5030656
NM_000106.6(CYP2D6):c.886= (p.Arg296=) rs16947
NM_000169.3(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_012120.3(CD2AP):c.62G>A (p.Arg21Gln) rs559978848
NM_018283.4(NUDT15):c.38GAGTCG[4] (p.13GV[4]) rs746071566
NM_024006.6(VKORC1):c.283+124G>C rs8050894
NM_024426.6(WT1):c.411G>C (p.Pro137=) rs1332588174
NM_030667.3(PTPRO):c.3497G>C (p.Gly1166Ala) rs528784695

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