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: 55

HGVS dbSNP
NM_000038.5(APC):c.*1098T>C rs41116
NM_000038.5(APC):c.*1460C>T rs3733961
NM_000038.5(APC):c.*1556C>G rs448475
NM_000038.5(APC):c.*1753G>A rs397768
NM_000038.5(APC):c.*434C>T rs12189
NM_000038.5(APC):c.*86C>A rs1804197
NM_000038.5(APC):c.136-53T>C rs2304793
NM_000038.5(APC):c.1408+792A>T rs77551834
NM_000038.5(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.5(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.423-16A>T rs78919815
NM_000038.5(APC):c.4479G>A (p.Thr1493=) rs41115
NM_000038.5(APC):c.5034G>A (p.Gly1678=) rs42427
NM_000038.5(APC):c.5268T>G (p.Ser1756=) rs866006
NM_000038.5(APC):c.5880G>A (p.Pro1960=) rs465899
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.3(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.4(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.3(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.4(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000403.3(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_000463.2(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000521.3(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_000559.2(HBG1):c.227C>T (p.Thr76Ile) rs1061234
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala) rs199422212
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) rs4987076
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808
NM_005141.4(FGB):c.1433G>A (p.Arg478Lys) rs4220
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.4(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006446.4(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056
UGT1A1*28 rs3064744
UGT1A1*6 rs4148323

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