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: 74

HGVS dbSNP gnomAD frequency
NM_030667.3(PTPRO):c.1106-10T>A rs4764199 0.84939
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_000684.3(ADRB1):c.1165G>C (p.Gly389Arg) rs1801253 0.69242
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_000145.4(FSHR):c.919G>A (p.Ala307Thr) rs6165 0.47188
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
NM_001276254.2(IFNL4):c.151-152G>A 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_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
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_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

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