ClinVar Miner

List of variants reported as uncertain significance for Hereditary cancer-predisposing syndrome by Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.

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ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.*1175A>C rs78378222 0.00849
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457 0.00050
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) rs144386518 0.00030
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) rs146218439 0.00008
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_001042492.3(NF1):c.1528-10T>C rs376174484 0.00007
NM_000038.6(APC):c.4478C>T (p.Thr1493Met) rs374892194 0.00006
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn) rs376256852 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr) rs587782263 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_024675.4(PALB2):c.2866G>A (p.Glu956Lys) rs1219715328 0.00006
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn) rs759048538 0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015 0.00005
NM_000038.6(APC):c.4073C>T (p.Ala1358Val) rs730881249 0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000251.2(MSH2):c.-102T>C rs17217709 0.00004
NM_000455.5(STK11):c.613G>A (p.Ala205Thr) rs730881981 0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp) rs757512142 0.00003
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile) rs779148780 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser) rs773301485 0.00002
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp) rs766748586 0.00002
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp) rs369299948 0.00002
NM_001127511.3(APC):c.166-28443T>A rs751998391 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_000038.6(APC):c.3136A>G (p.Asn1046Asp) rs755493779 0.00001
NM_000038.6(APC):c.5224C>T (p.Arg1742Cys) rs876658835 0.00001
NM_000038.6(APC):c.5918G>A (p.Ser1973Asn) rs4987109 0.00001
NM_000038.6(APC):c.6127A>G (p.Ile2043Val) rs876660233 0.00001
NM_000038.6(APC):c.6887G>A (p.Ser2296Asn) rs919611781 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2915C>T (p.Pro972Leu) rs750093937 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe) rs769872474 0.00001
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala) rs587782149 0.00001
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys) rs368952892 0.00001
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp) rs41293501 0.00001
NM_000179.3(MSH6):c.1864A>C (p.Ile622Leu) rs587778529 0.00001
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu) rs755847154 0.00001
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983 0.00001
NM_000249.4(MLH1):c.826A>G (p.Ile276Val) rs876660395 0.00001
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys) rs878853797 0.00001
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849 0.00001
NM_000465.4(BARD1):c.2071C>T (p.Leu691Phe) rs1036838204 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.449C>T (p.Pro150Leu) rs778119115 0.00001
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948 0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721 0.00001
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr) rs201103359 0.00001
NM_001048174.2(MUTYH):c.634G>A (p.Ala212Thr) rs774237159 0.00001
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val) rs587780747 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser) rs773441320 0.00001
NM_004360.5(CDH1):c.2549C>G (p.Ser850Cys) rs1337211551 0.00001
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys) rs121964873 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.434G>A (p.Arg145Gln) rs587781667 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile) rs778480809 0.00001
NM_000038.6(APC):c.1338C>A (p.Ile446=) rs759703047
NM_000038.6(APC):c.1480A>T (p.Ser494Cys)
NM_000038.6(APC):c.1481G>A (p.Ser494Asn) rs1554081691
NM_000038.6(APC):c.1811C>T (p.Ala604Val) rs370955311
NM_000038.6(APC):c.2513G>A (p.Arg838Lys) rs1765200954
NM_000038.6(APC):c.2934A>T (p.Gln978His)
NM_000038.6(APC):c.3421A>G (p.Thr1141Ala) rs1476899240
NM_000038.6(APC):c.4589A>G (p.Glu1530Gly)
NM_000038.6(APC):c.5050T>C (p.Phe1684Leu) rs886059795
NM_000038.6(APC):c.947A>G (p.Tyr316Cys) rs876659673
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg) rs2082686442
NM_000051.4(ATM):c.5240A>G (p.His1747Arg) rs1555105695
NM_000051.4(ATM):c.590G>T (p.Gly197Val) rs753806542
NM_000051.4(ATM):c.7706A>G (p.Asp2569Gly) rs1555124575
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582
NM_000051.4(ATM):c.929G>A (p.Ser310Asn) rs2079879169
NM_000051.4(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000059.4(BRCA2):c.2307_2312del (p.Ile770_Leu771del) rs1555282605
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser) rs80359006
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000179.3(MSH6):c.1897A>T (p.Thr633Ser)
NM_000179.3(MSH6):c.1946A>G (p.Asp649Gly) rs777799551
NM_000179.3(MSH6):c.2018C>T (p.Pro673Leu) rs864622085
NM_000179.3(MSH6):c.23A>G (p.Tyr8Cys) rs1572697757
NM_000179.3(MSH6):c.2615T>A (p.Ile872Lys) rs1064793342
NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp) rs370505117
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3517G>A (p.Val1173Met) rs730881806
NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu) rs1553369778
NM_000455.5(STK11):c.1105C>T (p.Pro369Ser) rs758887235
NM_000455.5(STK11):c.1259C>A (p.Ala420Asp) rs369033659
NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr) rs587781555
NM_000465.4(BARD1):c.684A>T (p.Glu228Asp) rs780627045
NM_000535.7(PMS2):c.1042G>C (p.Glu348Gln) rs1783538909
NM_000535.7(PMS2):c.1293G>C (p.Glu431Asp)
NM_000535.7(PMS2):c.2479A>G (p.Met827Val) rs876659537
NM_000535.7(PMS2):c.2500A>G (p.Met834Val)
NM_001042492.3(NF1):c.3193A>C (p.Thr1065Pro)
NM_001042492.3(NF1):c.8244A>T (p.Glu2748Asp) rs878853919
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001128425.2(MUTYH):c.36+119G>A
NM_001128425.2(MUTYH):c.36+181G>C
NM_002485.5(NBN):c.172-28G>T
NM_002485.5(NBN):c.2138C>G (p.Ala713Gly) rs986903713
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly) rs1554555748
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.574C>G (p.Gln192Glu)
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn) rs764396738
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu) rs80356945
NM_024675.4(PALB2):c.233T>C (p.Val78Ala) rs1313634930
NM_032043.3(BRIP1):c.3528_3529insTTT (p.Ile1176_Lys1177insPhe)
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile) rs876658780
NM_058216.3(RAD51C):c.1027-3C>G rs587782459

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