ClinVar Miner

Variants with conflicting interpretations "other" and "benign"

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

Total variants with conflicting interpretations: 61

HGVS dbSNP gnomAD frequency
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840 0.57695
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000446.6(PON1):c.-108C>T rs705379 0.36079
NM_000559.3(HBG1):c.227C>T (p.Thr76Ile) rs1061234 0.35682
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 0.20441
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220 0.15295
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932 0.11804
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 0.07150
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
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_000137.4(FAH):c.1021C>T (p.Arg341Trp) rs11555096 0.02131
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) rs4987076 0.02032
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
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
CYP2D6*6 rs5030655 0.00883
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 0.00596
FIBRINOGEN PARIS 1 rs2066862 0.00546
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_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 0.00019
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
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_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
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

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