ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Color Diagnostics, LLC DBA Color Health and "benign" from any submitter

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 153
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys) rs201205904 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00014
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp) rs373440614 0.00010
NM_000335.5(SCN5A):c.*1G>A rs375282305 0.00010
NM_000038.6(APC):c.5072C>T (p.Pro1691Leu) rs1060503346 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn) rs112236248 0.00007
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) rs139060277 0.00007
NM_004329.3(BMPR1A):c.478A>G (p.Met160Val) rs145101532 0.00007
NM_000038.6(APC):c.2461G>A (p.Val821Ile) rs138498551 0.00006
NM_000038.6(APC):c.4478C>T (p.Thr1493Met) rs374892194 0.00006
NM_000038.6(APC):c.7577A>G (p.His2526Arg) rs750012595 0.00006
NM_000090.4(COL3A1):c.1165A>T (p.Asn389Tyr) rs200394946 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000455.5(STK11):c.125G>T (p.Arg42Leu) rs148830698 0.00006
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000548.5(TSC2):c.5319T>C (p.His1773=) rs536518032 0.00006
NM_004329.3(BMPR1A):c.1520A>G (p.Asn507Ser) rs750840234 0.00006
NM_000218.3(KCNQ1):c.1128+4C>T rs201590918 0.00005
NM_004329.3(BMPR1A):c.83G>A (p.Ser28Asn) rs371904636 0.00005
NM_000038.6(APC):c.1762G>A (p.Val588Ile) rs372416031 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000038.6(APC):c.3383C>G (p.Ser1128Cys) rs755586334 0.00004
NM_000038.6(APC):c.4055T>C (p.Val1352Ala) rs528724202 0.00004
NM_000038.6(APC):c.5500G>A (p.Val1834Ile) rs555944438 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000038.6(APC):c.883A>G (p.Ser295Gly) rs587780611 0.00004
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn) rs752513328 0.00004
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270 0.00004
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 0.00004
NM_004329.3(BMPR1A):c.1216C>T (p.Arg406Cys) rs587781332 0.00004
NM_004329.3(BMPR1A):c.140G>A (p.Gly47Glu) rs368595543 0.00004
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) rs376651641 0.00004
NM_004329.3(BMPR1A):c.383A>G (p.Asn128Ser) rs375165807 0.00004
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) rs369834416 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.7150T>A (p.Leu2384Ile) rs755345693 0.00003
NM_000090.4(COL3A1):c.1662C>T (p.Pro554=) rs373963384 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu) rs567733221 0.00003
NM_004329.3(BMPR1A):c.437T>C (p.Phe146Ser) rs587778112 0.00003
NM_000038.6(APC):c.1685C>T (p.Thr562Met) rs587783034 0.00002
NM_000038.6(APC):c.2780C>G (p.Ala927Gly) rs587781500 0.00002
NM_000038.6(APC):c.5290C>G (p.Gln1764Glu) rs529543591 0.00002
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln) rs759728732 0.00002
NM_000038.6(APC):c.8141G>A (p.Arg2714His) rs747362422 0.00002
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) rs373407950 0.00002
NM_000251.3(MSH2):c.1717G>A (p.Ala573Thr) rs200766962 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_004329.3(BMPR1A):c.1048T>C (p.Tyr350His) rs749571434 0.00002
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val) rs587781503 0.00002
NM_004329.3(BMPR1A):c.455G>A (p.Arg152Gln) rs567009904 0.00002
NM_004329.3(BMPR1A):c.568A>G (p.Asn190Asp) rs771444196 0.00002
NM_004329.3(BMPR1A):c.94G>C (p.Gly32Arg) rs755462552 0.00002
NM_000038.6(APC):c.4766G>A (p.Arg1589His) rs374048423 0.00001
NM_000038.6(APC):c.835-4T>G rs756807560 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val) rs775362401 0.00001
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu) rs761960690 0.00001
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile) rs1553368510 0.00001
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val) rs771695599 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.266T>C (p.Val89Ala) rs876659747 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys) rs587779971 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.962C>G (p.Thr321Ser) rs1233448699 0.00001
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) rs780449220 0.00001
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr) rs369744528 0.00001
NM_000455.5(STK11):c.1129G>A (p.Ala377Thr) rs768870802 0.00001
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000548.5(TSC2):c.2742+3G>A rs373935836 0.00001
NM_000548.5(TSC2):c.4330C>G (p.Pro1444Ala) rs1459518095 0.00001
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796 0.00001
NM_004329.3(BMPR1A):c.1215A>C (p.Lys405Asn) rs587781522 0.00001
NM_004329.3(BMPR1A):c.1274A>T (p.Tyr425Phe) rs758599378 0.00001
NM_004329.3(BMPR1A):c.1379T>C (p.Met460Thr) rs758309022 0.00001
NM_004329.3(BMPR1A):c.1412G>A (p.Arg471His) rs779371501 0.00001
NM_004329.3(BMPR1A):c.1430A>G (p.Lys477Arg) rs767995260 0.00001
NM_004329.3(BMPR1A):c.1513G>A (p.Ala505Thr) rs369966011 0.00001
NM_004329.3(BMPR1A):c.1549A>G (p.Ile517Val) rs754607465 0.00001
NM_004329.3(BMPR1A):c.524G>A (p.Cys175Tyr) rs370091063 0.00001
NM_004329.3(BMPR1A):c.559C>T (p.Arg187Cys) rs587782231 0.00001
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His) rs746231785 0.00001
NM_004329.3(BMPR1A):c.5C>T (p.Pro2Leu) rs143248687 0.00001
NM_004329.3(BMPR1A):c.628A>G (p.Ile210Val) rs750274275 0.00001
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr) rs587780783 0.00001
NM_004329.3(BMPR1A):c.751G>T (p.Gly251Cys) rs750513716 0.00001
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) rs368869076 0.00001
NM_004656.4(BAP1):c.572T>C (p.Ile191Thr) rs752793866 0.00001
NM_005902.4(SMAD3):c.502G>A (p.Ala168Thr) rs548756379 0.00001
NM_007294.4(BRCA1):c.5419A>G (p.Ile1807Val) rs786202721 0.00001
NM_058216.3(RAD51C):c.233C>T (p.Thr78Ile) rs112832782 0.00001
NM_000038.6(APC):c.2630G>C (p.Gly877Ala) rs558732083
NM_000038.6(APC):c.5078A>G (p.Glu1693Gly) rs533667536
NM_000038.6(APC):c.5486A>G (p.Asn1829Ser) rs767612847
NM_000038.6(APC):c.730-3C>T rs786203125
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly) rs397507283
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr) rs80358976
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000251.3(MSH2):c.1322C>T (p.Thr441Ile) rs1553361210
NM_000251.3(MSH2):c.1868C>T (p.Ala623Val) rs781698416
NM_000251.3(MSH2):c.190A>G (p.Ile64Val) rs1166747167
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp) rs41295296
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile) rs34319539
NM_000251.3(MSH2):c.391T>G (p.Phe131Val) rs755423698
NM_000256.3(MYBPC3):c.1224-61_1224-53dup rs1565628380
NM_000335.5(SCN5A):c.4540-10C>A rs750747122
NM_000527.4(LDLR):c.-88G>A
NM_000527.5(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000546.6(TP53):c.932A>G (p.Asn311Ser) rs56184981
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_004329.3(BMPR1A):c.1573G>A (p.Val525Ile) rs769233029
NM_004329.3(BMPR1A):c.499A>T (p.Met167Leu) rs200951235
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu) rs778886055
NM_004329.3(BMPR1A):c.712C>G (p.Arg238Gly) rs747728399
NM_004329.3(BMPR1A):c.712C>T (p.Arg238Trp) rs747728399
NM_004329.3(BMPR1A):c.943G>A (p.Gly315Arg) rs730881435
NM_004656.4(BAP1):c.1201_1212del (p.Tyr401_Asp404del) rs776606194
NM_004656.4(BAP1):c.1801A>G (p.Lys601Glu) rs142059527
NM_004656.4(BAP1):c.1805A>T (p.Glu602Val) rs144993791
NM_007294.4(BRCA1):c.3463G>C (p.Asp1155His) rs80357484
NM_007294.4(BRCA1):c.4981G>A (p.Glu1661Lys) rs80357401
NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln) rs80357432
NM_007294.4(BRCA1):c.81-5G>A rs1555599296
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.