ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and "pathogenic" from any submitter

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 124
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HGVS dbSNP
NM_000016.5(ACADM):c.1052C>T (p.Thr351Ile) rs766140986
NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) rs193922098
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) rs137852445
NM_000132.3(F8):c.592T>G (p.Cys198Gly) rs137852475
NM_000138.5(FBN1):c.2645C>T rs794728195
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000156.6(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000267.3(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000399.5(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.1367T>C rs193922500
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000531.6(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000535.7(PMS2):c.1144+1G>A rs373885654
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001142800.2(EYS):c.8243dup (p.Leu2748fs) rs1240944758
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776
NM_001360.2(DHCR7):c.1349_1350delinsTG (p.Arg450Leu) rs1591107040
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val)
NM_001844.5(COL2A1):c.1924G>A (p.Gly642Arg) rs794727472
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_003000.3(SDHB):c.380T>G rs786201095
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003238.5(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.5(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_014639.3(TTC37):c.2578-7_2578-3del rs746874042
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783
NM_020975.6(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504
NM_033380.3(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902

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