ClinVar Miner

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

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

Total variants with conflicting interpretations: 66

HGVS dbSNP
CYP2C19*15 rs17882687
CYP2C19*17 rs12248560
NC_000019.9:g.39743165T>G rs8099917
NM_000103.4(CYP19A1):c.*161T>G rs4646
NM_000120.4(EPHX1):c.337T>C (p.Tyr113His) rs1051740
NM_000120.4(EPHX1):c.416A>G (p.His139Arg) rs2234922
NM_000130.5(F5):c.1601= (p.Arg534=) rs6025
NM_000145.3(FSHR):c.919G>A (p.Ala307Thr) rs6165
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000173.7(GP1BA):c.482C>T (p.Thr161Met) rs6065
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000463.2(UGT1A1):c.-53_-52TA[6] rs3064744
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000621.4(HTR2A):c.614-2211T>C rs7997012
NM_000636.4(SOD2):c.47T>C (p.Val16Ala) rs4880
NM_000754.3(COMT):c.186C>T (p.His62=) rs4633
NM_000754.3(COMT):c.408C>G (p.Leu136=) rs4818
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343
NM_000777.5(CYP3A5):c.219-237= rs776746
NM_000795.3(DRD2):c.-585A>G rs1799978
NM_000868.3(HTR2C):c.551-3008C>G rs1414334
NM_001008503.2(OPRM1):c.1164+16059C>T rs677830
NM_001008503.2(OPRM1):c.440C>G (p.Ser147Cys) rs17174794
NM_001074.4(UGT2B7):c.1062C>T (p.Tyr354=)
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) rs1801274
NM_001276254.2(IFNL4):c.151-152G>A rs12979860
NM_001348946.2(ABCB1):c.1236T>C (p.Gly412=) rs1128503
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_001348946.2(ABCB1):c.287-25G>T
NM_001348946.2(ABCB1):c.3320A>C (p.Gln1107Pro)
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=) rs1045642
NM_001963.6(EGF):c.-382A>G rs4444903
NM_001983.4(ERCC1):c.354T>C (p.Asn118=) rs11615
NM_002075.4(GNB3):c.825C>T (p.Ser275=) rs5443
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_004621.6(TRPC6):c.2142G>T (p.Thr714=) rs145077205
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006440.5(TXNRD2):c.103+197G>A rs13306278
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056
NM_014619.5(GRIK4):c.83-10039T>C rs1954787
NM_017460.5(CYP3A4):c.-392G>A rs2740574
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668
NM_024006.6(VKORC1):c.*134G>A rs7294
NM_024006.6(VKORC1):c.173+525C>T rs17708472
NM_024006.6(VKORC1):c.174-136C>T rs9934438
NM_024006.6(VKORC1):c.283+837T>C rs2359612
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409
NM_176817.5(TAS2R38):c.785= (p.Ala262=) rs1726866
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) rs1800497
Single allele
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323

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