ClinVar Miner

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

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

Total variants with conflicting interpretations: 44

HGVS dbSNP
CYP2C19*4A rs28399504
CYP2C9*11
NM_000106.5(CYP2D6):c.454delT (p.Trp152Glyfs) rs5030655
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.5(CYP2D6):c.506-1G>A rs3892097
NM_000106.5(CYP2D6):c.775delA (p.Arg259Glyfs) rs35742686
NM_000106.5(CYP2D6):c.841_843delAAG (p.Lys281del) rs5030656
NM_000106.5(CYP2D6):c.985+39G>A rs28371725
NM_000106.6(CYP2D6):c.100C>T (p.Pro34Ser) rs1065852
NM_000106.6(CYP2D6):c.1457= (p.Ser486=) rs1135840
NM_000106.6(CYP2D6):c.31G>A (p.Val11Met)
NM_000106.6(CYP2D6):c.709G>T (p.Ala237Ser) rs28371717
NM_000106.6(CYP2D6):c.886= (p.Arg296=) rs16947
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000367.4(TPMT):c.460G>A (p.Ala154Thr) rs1800460
NM_000367.4(TPMT):c.719A>G (p.Tyr240Cys) rs1142345
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_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000524.3(HTR1A):c.-1019G>C rs6295
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000769.1(CYP2C19):c.681G>A (p.Pro227=) rs4244285
NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys) rs1799853
NM_000795.4(DRD2):c.811-83G>T rs1076560
NM_001025195.2(CES1):c.431G>A (p.Gly144Glu) rs71647871
NM_001074.4(UGT2B7):c.137T>C (p.Leu46Pro)
NM_001127593.1(FCGR3A):c.526T>G (p.Phe176Val) rs396991
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_013389.3(NPC1L1):c.3698T>A (p.Ile1233Asn) rs52815063
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668
NM_024006.4(VKORC1):c.-1639G>A rs9923231
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr) rs61742245
NM_024006.6(VKORC1):c.174-136C>T rs9934438
NM_024006.6(VKORC1):c.283+124G>C rs8050894
Single allele
UGT1A1*6 rs4148323

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