ClinVar Miner

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

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

Total variants with conflicting interpretations: 73

HGVS dbSNP gnomAD frequency
NM_030667.3(PTPRO):c.1106-10T>A rs4764199 0.84939
NM_000862.3(HSD3B1):c.1100C>A (p.Thr367Asn) rs1047303 0.76219
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_006297.3(XRCC1):c.1196A>G (p.Gln399Arg) rs25487 0.71503
NM_000024.6(ADRB2):c.-47C>T rs1042711 0.67439
NM_024006.6(VKORC1):c.283+837T>C rs2359612 0.65429
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_176817.5(TAS2R38):c.785= (p.Ala262=) rs1726866 0.53241
NM_194255.4(SLC19A1):c.80A>G (p.His27Arg) rs1051266 0.51413
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_000754.4(COMT):c.186C>T (p.His62=) rs4633 0.44697
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680 0.44044
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_000106.6(CYP2D6):c.1457= (p.Ser486=) rs1135840 0.42305
NM_000754.4(COMT):c.289+90A>G rs2239393 0.39046
NC_000019.10:g.39248147C>T rs12979860 0.37827
NM_000754.4(COMT):c.408C>G (p.Leu136=) rs4818 0.32165
NM_024006.6(VKORC1):c.174-136C>T rs9934438 0.31147
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg) rs1801265 0.27966
NM_004044.7(ATIC):c.1503+675T>C rs4673993 0.25749
NM_001101648.2(NPC1L1):c.816C>G (p.Leu272=) rs2072183 0.23523
NM_001348946.2(ABCB1):c.287-25G>T rs2235015 0.23041
NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) rs2108622 0.22058
NM_000914.5(OPRM1):c.1165-11152C>T rs677830 0.21164
NM_000769.1(CYP2C19):c.-806C>T rs12248560 0.20441
NM_000110.4(DPYD):c.1627A>G (p.Ile543Val) rs1801159 0.18679
NM_000754.4(COMT):c.615+75G>C rs4646315 0.17853
NM_001074.4(UGT2B7):c.1062C>T (p.Tyr354=) rs4348159 0.17671
NC_000019.10:g.39252525T>G rs8099917 0.15536
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343 0.12936
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_000754.4(COMT):c.219G>A (p.Gln73=) rs740602 0.05987
NM_000754.4(COMT):c.597G>A (p.Pro199=) rs769224 0.04486
NM_000110.4(DPYD):c.1896T>C (p.Phe632=) rs17376848 0.04278
NM_000754.4(COMT):c.616-45G>C rs117222687 0.04168
NM_000110.4(DPYD):c.2194G>A (p.Val732Ile) rs1801160 0.03794
NM_133509.5(RAD51B):c.1094C>G (p.Pro365Arg) rs28908468 0.02778
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_000024.6(ADRB2):c.491C>T (p.Thr164Ile) rs1800888 0.00918
UGT1A1*6 rs4148323 0.00891
CYP2D6*6 rs5030655 0.00883
NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser) rs28371717 0.00827
CYP2C9*11 rs28371685 0.00738
NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro) rs55852620 0.00629
CYP2C19*15 rs17882687 0.00626
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_000914.5(OPRM1):c.440C>G (p.Ser147Cys) rs17174794 0.00425
CYP2C9*5 rs28371686 0.00342
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_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) rs4986893 0.00149
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
CYP2C9*6 rs9332131
CYP2C9*8 rs7900194
NM_000106.6(CYP2D6):c.886= (p.Arg296=) rs16947
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) rs145077205
NM_022489.4(INF2):c.2507T>C (p.Ile836Thr) rs767351070
UGT1A1*28 rs3064744
UGT1A1*36 rs3064744
UGT1A1*37 rs3064744

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.