ClinVar Miner

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

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

Total variants with conflicting interpretations: 199

HGVS dbSNP gnomAD frequency
NM_000733.4(CD3E):c.*98_*101dup rs193922618 0.00450
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr) rs146466185 0.00158
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681 0.00044
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_005912.3(MC4R):c.677T>C (p.Ile226Thr) rs193922686 0.00037
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454 0.00020
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_000143.4(FH):c.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_006206.6(PDGFRA):c.2291G>A (p.Arg764His) rs141047712 0.00015
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr) rs201165084 0.00013
NM_003361.4(UMOD):c.1648G>A (p.Val550Ile) rs188709583 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_003000.3(SDHB):c.403G>A (p.Val135Met) rs201585157 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln) rs387907487 0.00011
NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln) rs368990025 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000203.5(IDUA):c.299+1368C>T rs376289512 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 0.00010
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met) rs147982027 0.00010
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_001288772.2(PIK3C2G):c.2714T>G (p.Leu905Arg) rs387907449 0.00009
NM_004795.4(KL):c.2862G>A (p.Pro954=) rs387907447 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_022042.4(SLC26A1):c.731T>C (p.Met244Thr) rs374176452 0.00008
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000251.3(MSH2):c.944G>T (p.Gly315Val) rs202026056 0.00006
NM_000316.3(PTH1R):c.1304C>T (p.Thr435Met) rs387907460 0.00006
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994 0.00006
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00005
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000222.3(KIT):c.839C>T (p.Ala280Val) rs386833402 0.00004
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000376.3(VDR):c.259A>G (p.Ile87Val) rs387907555 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_006206.6(PDGFRA):c.1700C>T (p.Pro567Leu) rs201503614 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550 0.00004
NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met) rs201503661 0.00004
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) rs137854580 0.00003
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001098.3(ACO2):c.1927G>A (p.Val643Ile) rs387907390 0.00003
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003
NM_004360.5(CDH1):c.671G>A (p.Arg224His) rs201511530 0.00003
NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp) rs483352766 0.00003
NM_144997.7(FLCN):c.586A>G (p.Ile196Val) rs201078144 0.00003
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075 0.00002
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) rs80359128 0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del rs386134242 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001127898.4(CLCN5):c.1828G>A (p.Ala610Thr) rs387907403 0.00002
NM_004795.4(KL):c.497A>G (p.Asn166Ser) rs387907444 0.00002
NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp) rs202004680 0.00002
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) rs199740875 0.00001
NM_000038.6(APC):c.695G>A (p.Arg232Gln) rs201727026 0.00001
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly) rs200406572 0.00001
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580 0.00001
NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met) rs483352704 0.00001
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716 0.00001
NM_003000.3(SDHB):c.638T>C (p.Met213Thr) rs202014362 0.00001
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392 0.00001
NM_003705.5(SLC25A12):c.1417C>T (p.Arg473Trp) rs483352725 0.00001
NM_004360.5(CDH1):c.2077G>A (p.Gly693Ser) rs386833398 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771 0.00001
NM_017433.5(MYO3A):c.2845G>T (p.Val949Phe) rs483352742 0.00001
NM_018061.4(PRPF38B):c.1463G>A (p.Arg488Gln) rs386352353 0.00001
NM_020638.3(FGF23):c.623A>G (p.Gln208Arg) rs387907425 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_148960.3(CLDN19):c.153G>T (p.Trp51Cys) rs387907418 0.00001
NM_153766.3(KCNJ1):c.242A>G (p.Tyr81Cys) rs387907439 0.00001
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3
GRCh37/hg19 17p13.3(chr17:525-632905)x3
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
GRCh38/hg38 15q13.2-13.3(chr15:30361674-32607357)x3
GRCh38/hg38 15q13.2-13.3(chr15:30438310-32569425)x3
GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3
GRCh38/hg38 17p13.3(chr17:2599570-2624929)x3
GRCh38/hg38 6q11.1(chr6:61468685-62167348)x3
GRCh38/hg38 7q21.13(chr7:88563550-90170632)x3
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.4375_4377del (p.Thr1459del) rs386833393
NM_000038.6(APC):c.53T>A (p.Met18Lys) rs200960071
NM_000059.4(BRCA2):c.50C>T (p.Thr17Ile) rs386833396
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys) rs139052578
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000179.3(MSH6):c.1390A>T (p.Ile464Phe) rs201892477
NM_000179.3(MSH6):c.1618C>A (p.Leu540Ile) rs201996928
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000245.4(MET):c.1306G>C (p.Glu436Gln) rs200740468
NM_000245.4(MET):c.2383A>G (p.Asn795Asp) rs200633053
NM_000492.4(CFTR):c.2762G>A (p.Gly921Glu) rs193922508
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys) rs386833394
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849

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