ClinVar Miner

List of variants reported as drug response by PharmGKB

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ClinVar version:
Total variants: 248
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HGVS dbSNP
CYP2C19*3 rs4986893
CYP2C19*4A rs28399504
CYP2C9*8 rs7900194
NC_000002.11:g.208494234T>C rs2952768
NC_000002.11:g.234668881_234668882TA[5][6][7][8]
NC_000007.13:g.55088256_55088257CA[9][14][15][16][17][18][19][20][21][22][23]
NC_000010.11:g.94645745G>A rs12777823
NC_000011.9:g.103418158A>G rs716274
NC_000012.11:g.69824024C>T rs7297610
NC_000015.9:g.45620985C>T rs1719247
NC_000016.10:g.31099660G>A rs7196161
NC_000018.9:g.57851097T>C rs17782313
NC_000018.9:g.57882787C>A rs489693
NC_000019.9:g.39743165T>G rs8099917
NC_012920.1:m.1555A>G rs267606617
NM_000015.3(NAT2):c.282C>T (p.Tyr94=) rs1041983
NM_000015.3(NAT2):c.590G>A (p.Arg197Gln) rs1799930
NM_000024.5(ADRB2):c.46= (p.Arg16=) rs1042713
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000069.3(CACNA1S):c.3257G>T (p.Arg1086Leu) rs1800559
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819
NM_000078.3(CETP):c.658+186C>A rs1532624
NM_000103.4(CYP19A1):c.*161T>G rs4646
NM_000106.5(CYP2D6):c.506-1G>A rs3892097
NM_000110.3(DPYD):c.1129-5923C>G rs75017182
NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) rs55886062
NM_000110.3(DPYD):c.1898del (p.Pro633fs) rs72549303
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000110.3(DPYD):c.295_298TCAT[1] (p.Phe100fs) rs72549309
NM_000110.3(DPYD):c.2983G>T (p.Val995Phe) rs1801268
NM_000110.3(DPYD):c.557A>G (p.Tyr186Cys) rs115232898
NM_000110.3(DPYD):c.703C>T (p.Arg235Trp) rs1801266
NM_000130.4(F5):c.1601= (p.Arg534=) rs6025
NM_000173.7(GP1BA):c.482C>T (p.Thr161Met) rs6065
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) rs121908755
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.166G>A (p.Glu56Lys) rs397508256
NM_000492.3(CFTR):c.1736A>C (p.Asp579Ala) rs397508288
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3179A>C (p.Lys1060Thr) rs397508513
NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.3(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.349C>A (p.Arg117Ser) rs77834169
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3718-2477C>G rs75039782
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn) rs74503330
NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000524.3(HTR1A):c.-1019G>C rs6295
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000540.2(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.2(RYR1):c.103T>C (p.Cys35Arg) rs193922747
NM_000540.2(RYR1):c.11969G>T (p.Gly3990Val) rs193922843
NM_000540.2(RYR1):c.1201C>G (p.Arg401Gly) rs193922764
NM_000540.2(RYR1):c.1209C>G (p.Ile403Met) rs118192116
NM_000540.2(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.2(RYR1):c.14387A>G (p.Tyr4796Cys) rs118192167
NM_000540.2(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.2(RYR1):c.14497C>T (p.His4833Tyr) rs193922876
NM_000540.2(RYR1):c.14512C>G (p.Leu4838Val) rs193922878
NM_000540.2(RYR1):c.14545G>A (p.Val4849Ile) rs118192168
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.1565A>C (p.Tyr522Ser) rs118192162
NM_000540.2(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.2(RYR1):c.1597C>A (p.Arg533Ser) rs193922768
NM_000540.2(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.2(RYR1):c.1654C>T (p.Arg552Trp) rs193922770
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.1841G>A (p.Arg614His) rs193922772
NM_000540.2(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.2(RYR1):c.488G>A (p.Arg163His) rs193922753
NM_000540.2(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.2(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.2(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.2(RYR1):c.6617C>G (p.Thr2206Arg) rs118192177
NM_000540.2(RYR1):c.7007G>A (p.Arg2336His) rs112563513
NM_000540.2(RYR1):c.7039_7041GAG[1] (p.Glu2348del) rs121918596
NM_000540.2(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_000540.2(RYR1):c.7124G>C (p.Gly2375Ala) rs193922807
NM_000540.2(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809
NM_000540.2(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.2(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.2(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000540.2(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.2(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000540.2(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.2(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.2(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.2(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000540.2(RYR1):c.982C>A (p.Arg328=) rs193922762
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000594.3(TNF):c.-488G>A rs1800629
NM_000621.4(HTR2A):c.614-2211T>C rs7997012
NM_000636.4(SOD2):c.47T>C (p.Val16Ala) rs4880
NM_000675.6(ADORA2A):c.-275+1797C>T rs2298383
NM_000743.5(CHRNA3):c.*546C>T rs578776
NM_000743.5(CHRNA3):c.645C>T (p.Tyr215=) rs1051730
NM_000745.3(CHRNA5):c.1192G>A (p.Asp398Asn) rs16969968
NM_000748.3(CHRNB2):c.*472G>A rs2072661
NM_000754.3(COMT):c.472G>A (p.Val158Met) rs4680
NM_000767.5(CYP2B6):c.485-18C>T rs4803419
NM_000767.5(CYP2B6):c.516G>T (p.Gln172His) rs3745274
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343
NM_000767.5(CYP2B6):c.823-197T>C rs2279345
NM_000767.5(CYP2B6):c.983T>C (p.Ile328Thr) rs28399499
NM_000769.1(CYP2C19):c.681G>A (p.Pro227=) rs4244285
NM_000769.4(CYP2C19):c.-806C>A rs12248560
NM_000770.3(CYP2C8):c.1196A>G (p.Lys399Arg) rs10509681
NM_000771.3(CYP2C9):c.1075A>C (p.Ile359Leu) rs1057910
NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys) rs1799853
NM_000771.4(CYP2C9):c.1076T>C (p.Ile359Thr) rs56165452
NM_000771.4(CYP2C9):c.1080C>G (p.Asp360Glu) rs28371686
NM_000771.4(CYP2C9):c.482-2313A>T rs7089580
NM_000771.4(CYP2C9):c.820-6326A>C rs4917639
NM_000777.5(CYP3A5):c.219-237= rs776746
NM_000789.4(ACE):c.2306-105_2306-104insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT rs1799752
NM_000795.3(DRD2):c.-585A>G rs1799978
NM_000795.4(DRD2):c.811-83G>T rs1076560
NM_000821.7(GGCX):c.2084+45G>C rs11676382
NM_000852.3(GSTP1):c.313A>G (p.Ile105Val) rs1695
NM_000859.3(HMGCR):c.451-174A>T rs17244841
NM_000868.3(HTR2C):c.551-3008C>G rs1414334
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser) rs1800566
NM_000911.4(OPRD1):c.227+6066C>T rs678849
NM_000927.4(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_000927.4(ABCB1):c.3435T>C (p.Ile1145=) rs1045642
NM_000959.3(PTGFR):c.-562T>C rs3753380
NM_000962.3(PTGS1):c.-842A>G rs10306114
NM_001008503.2(OPRM1):c.118A>G (p.Asn40Asp) rs1799971
NM_001017535.1(VDR):c.2T>C (p.Met1Thr) rs2228570
NM_001025195.2(CES1):c.431G>A (p.Gly144Glu) rs71647871
NM_001071.4(TYMS):c.*450_*455del rs11280056
NM_001072.4(UGT1A6):c.861+25097T>G rs2011425
NM_001072.4(UGT1A6):c.862-7110C>T rs887829
NM_001076.4(UGT2B15):c.253T>G (p.Tyr85Asp) rs1902023
NM_001082.5(CYP4F2):c.1297G>A (p.Val433Met) rs2108622
NM_001105564.1(CCHCR1):c.1581-597T>C rs746647
NM_001127593.1(FCGR3A):c.526T>G (p.Phe176Val) rs396991
NM_001136018.3(EPHX1):c.337T>C (p.Tyr113His) rs1051740
NM_001136018.3(EPHX1):c.416A>G (p.His139Arg) rs2234922
NM_001144967.3(NEDD4L):c.49-16229G>A rs4149601
NM_001145146.2(CRHR1):c.1194+111C>T rs1876828
NM_001145775.2(FKBP5):c.-20+18122T>C rs4713916
NM_001146274.2(TCF7L2):c.450+33966C>T rs7903146
NM_001199280.2(HAS3):c.279A>G (p.Ala93=) rs2232228
NM_001202481.1(CRHR2):c.-166-546T>A rs7793837
NM_001219.5(CALU):c.582+133A>G rs339097
NM_001236.4(CBR3):c.730G>A (p.Val244Met) rs1056892
NM_001256760.2(HTR2C):c.-850C>T rs3813929
NM_001276254.2(IFNL4):c.151-152G>A rs12979860
NM_001290091.2(UGT2B10):c.-27+46G>T rs61750900
NM_001320586.2(ACYP2):c.404+29374G>A rs1872328
NM_001321015.2(GATM):c.-394-272A>G rs1346268
NM_001963.6(EGF):c.-382A>G rs4444903
NM_001983.4(ERCC1):c.*197G>T rs3212986
NM_001983.4(ERCC1):c.354T>C (p.Asn118=) rs11615
NM_002004.4(FDPS):c.-1-98T>G rs2297480
NM_002075.4(GNB3):c.825C>T (p.Ser275=) rs5443
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394
NM_002737.3(PRKCA):c.1854+3730G>A rs16960228
NM_004044.7(ATIC):c.1503+675T>C rs4673993
NM_004119.2(FLT3):c.680del (p.Thr227fs) rs1555256794
NM_004628.4(XPC):c.2815C>A (p.Gln939Lys) rs2228001
NM_004827.3(ABCG2):c.421C>A (p.Gln141Lys) rs2231142
NM_004985.5(KRAS):c.38G>T (p.Gly13Val) rs112445441
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005577.3(LPA):c.3947+467T>C rs10455872
NM_005845.4(ABCC4):c.3348G>A (p.Lys1116=) rs1751034
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006297.2(XRCC1):c.1196A>G (p.Gln399Arg) rs25487
NM_006379.5(SEMA3C):c.103+13883A>G rs7779029
NM_006440.5(TXNRD2):c.103+197G>A rs13306278
NM_006446.4(SLCO1B1):c.-910G>A rs4149015
NM_006446.5(SLCO1B1):c.1865+4846T>C rs11045879
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056
NM_006920.6(SCN1A):c.603-91G>A rs3812718
NM_012229.4(NT5C2):c.175+1178A>G rs11598702
NM_014619.4(GRIK4):c.83-10039T>C rs1954787
NM_015697.8(COQ2):c.779-1022C>G rs4693075
NM_017460.5(CYP3A4):c.-392G>A rs2740574
NM_018283.4(NUDT15):c.415C>T (p.Arg139Cys) rs116855232
NM_019075.2(UGT1A10):c.855+34440del rs3832043
NM_021642.4(FCGR2A):c.497A>G (p.His166Arg) rs1801274
NM_022127.3(SLC28A3):c.1381C>T (p.Leu461=) rs7853758
NM_022127.3(SLC28A3):c.862-360C>T rs885004
NM_024006.5(VKORC1):c.-1639G>T rs9923231
NM_024006.6(VKORC1):c.*134G>A rs7294
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245
NM_024006.6(VKORC1):c.173+324T>G rs2884737
NM_024006.6(VKORC1):c.173+525C>T rs17708472
NM_024006.6(VKORC1):c.174-136C>T rs9934438
NM_024006.6(VKORC1):c.283+124G>C rs8050894
NM_024006.6(VKORC1):c.283+837T>C rs2359612
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409
NM_033394.3(TANC1):c.-125-6169A>C rs10497203
NM_033394.3(TANC1):c.-15-22495C>T rs6432512
NM_033394.3(TANC1):c.-15-22919G>T rs7582141
NM_033394.3(TANC1):c.61+13908C>A rs264588
NM_033394.3(TANC1):c.61+6948A>G rs264651
NM_033394.3(TANC1):c.62-3284C>G rs264631
NM_033453.4(ITPA):c.124+21A>C rs7270101
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) rs1127354
NM_052958.4(C8orf34):c.736+8162C>G rs1517114
NM_052968.4(APOA5):c.-644C>T rs662799
NM_130797.4(DPP6):c.244-71279T>C rs6977820
NM_145027.6(KIF6):c.2155T>C (p.Trp719Arg) rs20455
NM_145867.1(LTC4S):c.-444A>C rs730012
NM_152587.5(C11orf65):c.175-5285G>T rs11212617
NM_152888.3(COL22A1):c.658+5484G>A rs6988229
NM_172139.4(IFNL3):c.259-126T>C rs11881222
NM_176801.2(ADD1):c.1378G>T (p.Gly460Trp) rs4961
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) rs1800497
NR_074079.1(IFNL4):n.342_343delinsC rs11322783
NR_103444.1(LOC100996325):n.366+1469G>A rs924607
UGT1A1*6 rs4148323
m.1095T>C rs267606618
m.1494C>T rs267606619

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