ClinVar Miner

Variants with conflicting interpretations "other" and "likely benign"

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

Total variants with conflicting interpretations: 103

HGVS dbSNP gnomAD frequency
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31157
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
CYP2D6*10 rs1065852 0.18675
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_000769.4(CYP2C19):c.681G>A (p.Pro227=) rs4244285 0.16148
CYP2D6*4 rs3892097 0.14340
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
CYP2C9*2 rs1799853 0.08975
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
CYP2D6*41 rs28371725 0.06736
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000367.5(TPMT):c.719A>G (p.Tyr240Cys) rs1142345 0.04459
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met) rs59421388 0.02682
NM_000367.5(TPMT):c.460G>A (p.Ala154Thr) rs1800460 0.02661
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000106.6(CYP2D6):c.775del (p.Arg259fs) rs35742686 0.01277
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
UGT1A1*6 rs4148323 0.00891
CYP2D6*6 rs5030655 0.00883
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
CYP2C9*5 rs28371686 0.00342
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000769.1(CYP2C19):c.1A>G (p.Met1Val) rs28399504 0.00156
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_000558.3(HBA1):c.154G>A (p.Gly52Ser) rs33960522 0.00030
NM_000106.5(CYP2D6):c.971A>C (p.His324Pro) rs5030867 0.00027
NM_000106.5(CYP2D6):c.124G>A (p.Gly42Arg) rs5030862 0.00024
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000184.2(HBG2):c.122G>A (p.Arg41Lys) rs281864892 0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345 0.00001
CYP2C9*6 rs9332131
CYP2D6*17 rs28371706
NM_000106.5(CYP2D6):c.*264G>A (p.Gly169Arg) rs5030865
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.6(CYP2D6):c.841_843del (p.Lys281del) rs5030656
NM_000184.2(HBG2):c.199A>C (p.Lys67Gln) rs34264694
NM_000184.2(HBG2):c.49G>C (p.Gly17Arg) rs34907654
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) rs281865555
NM_000517.6(HBA2):c.151C>G (p.His51Asp) rs41461652
NM_000517.6(HBA2):c.22A>G (p.Lys8Glu) rs34817956
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000517.6(HBA2):c.309C>A (p.Ser103Arg) rs41344646
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) rs33932070
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) rs334
NM_000518.4(HBB):c.232C>G (p.His78Asp) rs33991294
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) rs33990858
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) rs33950093
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.4(HBB):c.8A>G (p.His3Arg) rs33983205
NM_000518.5(HBB):c.140G>A (p.Gly47Glu) rs35303218
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) rs33911434
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.420T>A (p.Asn140Lys) rs34240441
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) rs63750840
NM_000518.5(HBB):c.9T>A (p.His3Gln) rs713040
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg) rs33960522
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr) rs33977363
NM_000558.3(HBA1):c.270C>G (p.His90Gln) rs1061009
NM_000558.3(HBA1):c.272A>C (p.Lys91Thr) rs33911106
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu) rs35317336
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn) rs34410516
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn) rs33914470
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala) rs35932809
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys) rs33993166
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
Single allele

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