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: 54

HGVS dbSNP
NM_000036.2(AMPD1):c.242C>T (p.Pro81Leu) rs61752479
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.2385C>T (p.Leu795=) rs80188155
NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060
NM_000106.5(CYP2D6):c.506-1G>A rs3892097
NM_000106.6(CYP2D6):c.100C>T (p.Pro34Ser) rs1065852
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_000155.3(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_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
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_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000492.3(CFTR):c.1210-11T>G rs73715573
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.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.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.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000521.3(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000769.1(CYP2C19):c.681G>A (p.Pro227=) rs4244285
NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys) rs1799853
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
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_016579.3(CD320):c.262_264delGAG (p.Glu88del) rs150384171
NM_024006.4(VKORC1):c.-1639G>A rs9923231
UGT1A1*6 rs4148323

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