ClinVar Miner

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

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

Total variants with conflicting interpretations: 62

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
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
CYP2D6*10 rs1065852 0.18675
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) rs4244285 0.16148
CYP2D6*4 rs3892097 0.14340
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343 0.12936
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.2194G>A (p.Val732Ile) rs1801160 0.03794
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
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
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 rs28371706
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.