ClinVar Miner

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

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

Total variants with conflicting interpretations: 86

HGVS dbSNP
CYP2C19*4A rs28399504
NM_000036.2(AMPD1):c.242C>T (p.Pro81Leu) rs61752479
NM_000038.6(APC):c.1958+8T>C rs62626346
NM_000038.6(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060
NM_000106.5(CYP2D6):c.*264G>A (p.Gly169Arg) rs5030865
NM_000106.5(CYP2D6):c.124G>A (p.Gly42Arg) rs5030862
NM_000106.5(CYP2D6):c.320C>T (p.Thr107Ile) rs28371706
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.971A>C (p.His324Pro) rs5030867
NM_000106.5(CYP2D6):c.985+39G>A rs28371725
NM_000106.6(CYP2D6):c.100C>T (p.Pro34Ser) rs1065852
NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met) rs59421388
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000367.4(TPMT):c.460G>A (p.Ala154Thr) rs1800460
NM_000367.4(TPMT):c.719A>G (p.Tyr240Cys) rs1142345
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000517.4(HBA2):c.49A>G (p.Lys17Glu) rs281865555
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) rs33990858
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455
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>C (p.Glu23Ala) rs33936254
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) rs33911434
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) rs33910209
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000519.4(HBD):c.82G>T (p.Ala28Ser) rs35152987
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_000558.3(HBA1):c.270C>G (p.His90Gln) rs1061009
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345
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.17C>A (p.Ala6Asp) rs34090856
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_000769.1(CYP2C19):c.681G>A (p.Pro227=) rs4244285
NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys) rs1799853
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu) rs28940885
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) rs150384171
NM_024006.4(VKORC1):c.-1639G>A rs9923231
UGT1A1*6 rs4148323

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.