ClinVar Miner

Variants with conflicting interpretations "other" and "uncertain significance"

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

Total variants with conflicting interpretations: 79

HGVS dbSNP
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000038.5(APC):c.1912A>G (p.Ile638Val) rs75117039
NM_000038.5(APC):c.1927T>C (p.Ser643Pro) rs78349383
NM_000038.5(APC):c.7049C>T (p.Ser2350Phe) rs75207119
NM_000038.5(APC):c.7513C>G (p.Arg2505Gly) rs79630786
NM_000059.3(BRCA2):c.1075G>A (p.Glu359Lys) rs1555281730
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000181.3(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.4(IDUA):c.667G>A (p.Asp223Asn) rs183347428
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959
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.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000463.2(UGT1A1):c.674T>G (p.Val225Gly) rs35003977
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg) rs41392146
NM_000518.4(HBB):c.125T>C (p.Phe42Ser) rs33926796
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) rs33990858
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228
NM_000518.4(HBB):c.34G>T (p.Val12Phe) rs33974228
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) rs33983276
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) rs33935445
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) rs33959855
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>T (p.Glu23Val) rs33936254
NM_000518.5(HBB):c.100G>A (p.Val34Met) rs1141370
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) rs35278874
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.253A>G (p.Thr85Ala) rs35960772
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) rs34022507
NM_000518.5(HBB):c.380T>A (p.Val127Glu) 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.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_001005741.2(GBA):c.882T>G (p.His294Gln) rs367968666
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) rs140814100
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001904.3(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_002734.4(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479
NM_005590.3(MRE11):c.1202A>G (p.His401Arg) rs146779325
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_016579.3(CD320):c.262_264delGAG (p.Glu88del) rs150384171

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