ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Quest Diagnostics Nichols Institute San Juan Capistrano and "pathogenic" from any submitter

Minimum review status of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano: Collection method of the submission from Quest Diagnostics Nichols Institute San Juan Capistrano:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 138
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) rs201375579 0.00017
NM_000558.5(HBA1):c.96-1G>A rs34883113 0.00017
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_000517.6(HBA2):c.69C>T (p.Gly23=) rs63751457 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) rs778906552 0.00003
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964 0.00003
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000143.4(FH):c.583A>G (p.Met195Val) rs1553341364 0.00001
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter) rs587781707 0.00001
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn) rs1554299737 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter) rs139170496 0.00001
NM_004360.5(CDH1):c.1137+1G>A rs876660771 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.5074G>C (p.Asp1692His) rs80187739 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs) rs879255300
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs) rs483353112
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer) rs876661270
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3201del (p.Val1068fs) rs864622672
NM_000059.4(BRCA2):c.3204_3207del (p.Ser1069fs) rs1555283099
NM_000059.4(BRCA2):c.3401del (p.Ser1134fs) rs1555283219
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.4(BRCA2):c.7292dup (p.Asn2431fs) rs2137557686
NM_000059.4(BRCA2):c.794-2A>G rs1566222053
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter) rs879255298
NM_000059.4(BRCA2):c.8941_8944del (p.Glu2981fs) rs1593936980
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.9584_9586delinsAT (p.Thr3195fs) rs2073041280
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs) rs1566260198
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter) rs1114167731
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter) rs1114167707
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del) rs63749942
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs) rs1553333500
NM_000249.4(MLH1):c.1409+1G>T rs267607825
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.283del (p.Ser95fs) rs1064795441
NM_000249.4(MLH1):c.381-1G>A rs267607744
NM_000249.4(MLH1):c.793del (p.Arg265fs) rs863225384
NM_000251.3(MSH2):c.1229del (p.Gly410fs) rs1553356700
NM_000251.3(MSH2):c.2458+1G>A rs267608010
NM_000314.8(PTEN):c.367C>T (p.His123Tyr) rs786204931
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.8(PTEN):c.781C>T (p.Gln261Ter) rs730882131
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000492.4(CFTR):c.1680-877G>T rs397508261
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000517.6(HBA2):c.358C>T (p.Pro120Ser) rs1262943621
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.103G>T (p.Val35Phe) rs1141387
NM_000518.5(HBB):c.221_224dup (p.Leu76fs) rs1564875128
NM_000518.5(HBB):c.316-3C>G rs33913413
NM_000518.5(HBB):c.431A>G (p.His144Arg) rs33918338
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000535.7(PMS2):c.116del (p.Val39fs) rs1064794152
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1A>C (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter) rs1555614207
NM_001042492.3(NF1):c.4333-2A>G rs1555618634
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys) rs1553609090
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter) rs1395288001
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter) rs149350323
NM_002485.5(NBN):c.306del (p.Phe102fs) rs587781305
NM_002528.7(NTHL1):c.350del (p.Pro117fs) rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs) rs763525759
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1553_1565+39del rs1555516191
NM_004360.5(CDH1):c.1587dup (p.Ala530fs) rs1555516532
NM_004360.5(CDH1):c.656del (p.Pro219fs) rs1555515284
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.372del (p.Phe125fs) rs876661050
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.616_617del (p.Val206fs) rs1346554630
NM_007294.4(BRCA1):c.1009_1010del (p.Glu337fs) rs1555592671
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.1714G>T (p.Glu572Ter) rs730881473
NM_007294.4(BRCA1):c.2214del (p.Val740fs) rs80357574
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5050_5051del (p.Thr1684fs) rs879255283
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5216A>T (p.Asp1739Val) rs80357227
NM_007294.4(BRCA1):c.5408G>C (p.Gly1803Ala) rs80357149
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.715del (p.His239fs) rs879255294
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625

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