ClinVar Miner

Variants with conflicting interpretations "benign" and "other"

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

Total variants with conflicting interpretations: 63

HGVS dbSNP gnomAD frequency
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840 0.57718
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49249
NM_000446.6(PON1):c.-108C>T rs705379 0.36079
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
NM_024006.4(VKORC1):c.-1639G>A rs9923231 0.31727
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_000769.1(CYP2C19):c.-806C>T rs12248560 0.19962
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.12614
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
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_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07384
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.04451
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04394
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03875
NM_000367.5(TPMT):c.460G>A (p.Ala154Thr) rs1800460 0.02661
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) rs4987076 0.02159
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_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
CYP2D6*6 rs5030655 0.00862
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00859
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00568
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00371
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798 0.00334
CYP2C9*5 rs28371686 0.00324
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00315
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter) rs4986893 0.00149
NM_000482.3(APOA4):c.748G>A (p.Glu250Lys) rs121909576 0.00029
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297 0.00021
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578 0.00021
NM_000477.7(ALB):c.1721A>G (p.Asp574Gly) rs79738788 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927 0.00001
CYP2C9*6 rs9332131
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000482.4(APOA4):c.1134_1145dup (p.376QQEQ[4]) rs539176882
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu) rs35317336
NM_000583.4(GC):c.1307C>A (p.Thr436Lys) rs4588
NM_004409.4(DMPK):c.*224CTG[(35_49)]
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
Single allele
UGT1A1*28 rs3064744

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.