ClinVar Miner

List of variants reported as uncertain significance for Familial cancer of breast by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg) rs730881382 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_007194.4(CHEK2):c.688G>T (p.Ala230Ser) rs748636216 0.00006
NM_007194.4(CHEK2):c.937G>A (p.Val313Met) rs752302543 0.00006
NM_032043.3(BRIP1):c.653G>A (p.Cys218Tyr) rs754242563 0.00006
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile) rs748377319 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn) rs276174886 0.00003
NM_000465.4(BARD1):c.1052C>T (p.Thr351Met) rs767208122 0.00003
NM_004360.5(CDH1):c.1684A>T (p.Thr562Ser) rs587782061 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr) rs544891616 0.00002
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe) rs752652869 0.00002
NM_004360.5(CDH1):c.2595G>C (p.Trp865Cys) rs778019174 0.00002
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp) rs587782268 0.00002
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) rs587782813 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_032043.3(BRIP1):c.713C>T (p.Thr238Ile) rs745955726 0.00002
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val) rs376893571 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_000051.4(ATM):c.2075G>A (p.Arg692His) rs751515818 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037 0.00001
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr) rs776309355 0.00001
NM_000051.4(ATM):c.5471T>G (p.Leu1824Arg) rs1565479465 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly) rs1060502399 0.00001
NM_000465.4(BARD1):c.1544C>G (p.Ser515Cys) rs746878509 0.00001
NM_000465.4(BARD1):c.2008A>G (p.Lys670Glu) rs775039040 0.00001
NM_000465.4(BARD1):c.49G>A (p.Gly17Arg) rs746495820 0.00001
NM_000465.4(BARD1):c.592G>T (p.Ala198Ser) rs748834249 0.00001
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp) rs587780038 0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile) rs556110297 0.00001
NM_005732.4(RAD50):c.3539G>A (p.Arg1180Gln) rs369788398 0.00001
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.451G>T (p.Gly151Cys) rs587781377 0.00001
NM_024675.4(PALB2):c.3236C>T (p.Ala1079Val) rs769342316 0.00001
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133 0.00001
NM_032043.3(BRIP1):c.2477A>G (p.Asn826Ser) rs760127237 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032043.3(BRIP1):c.2930C>T (p.Ala977Val) rs770352467 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly) rs776010326 0.00001
NM_032043.3(BRIP1):c.712A>C (p.Thr238Pro) rs1490001091 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu) rs760676955
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1388C>A (p.Ala463Glu)
NM_000051.4(ATM):c.1561A>G (p.Arg521Gly) rs2080118357
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2194A>G (p.Met732Val) rs1415360560
NM_000051.4(ATM):c.2250+4G>A rs1565395217
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu) rs730881348
NM_000051.4(ATM):c.2436G>A (p.Met812Ile) rs876658688
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro) rs2135553747
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.4(ATM):c.4220T>C (p.Ile1407Thr)
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr) rs587782126
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala) rs2082684549
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val) rs786203520
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.5064A>G (p.Ile1688Met)
NM_000051.4(ATM):c.5178-3C>T
NM_000051.4(ATM):c.5762G>C (p.Arg1921Thr)
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del) rs866749094
NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly) rs866824608
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro) rs1169558907
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000059.4(BRCA2):c.1233A>G (p.Ile411Met) rs1555281784
NM_000059.4(BRCA2):c.475+4T>C rs746963311
NM_000059.4(BRCA2):c.8488-3C>A rs1566249158
NM_000465.4(BARD1):c.100T>C (p.Trp34Arg) rs955904953
NM_000465.4(BARD1):c.1259T>C (p.Met420Thr) rs786203217
NM_000465.4(BARD1):c.1513G>A (p.Gly505Arg) rs864622240
NM_000465.4(BARD1):c.1793C>T (p.Thr598Ile) rs376256852
NM_000465.4(BARD1):c.2333G>C (p.Ter778Ser) rs776958611
NM_000465.4(BARD1):c.305A>T (p.Asp102Val)
NM_000465.4(BARD1):c.313A>G (p.Ile105Val)
NM_000465.4(BARD1):c.59C>T (p.Pro20Leu) rs753686197
NM_000465.4(BARD1):c.7G>A (p.Asp3Asn) rs1060501282
NM_004360.5(CDH1):c.1766A>G (p.Asn589Ser) rs1367108095
NM_005732.4(RAD50):c.136A>G (p.Ile46Val)
NM_005732.4(RAD50):c.2221G>C (p.Asp741His)
NM_005732.4(RAD50):c.3488T>C (p.Ile1163Thr) rs759753449
NM_005732.4(RAD50):c.3890C>T (p.Ser1297Leu)
NM_005732.4(RAD50):c.398G>T (p.Cys133Phe) rs786201788
NM_005732.4(RAD50):c.587G>A (p.Arg196His) rs764784659
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys) rs753136372
NM_007194.4(CHEK2):c.1097T>A (p.Ile366Asn) rs786202147
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.704A>T (p.Lys235Met)
NM_024675.4(PALB2):c.3347G>A (p.Gly1116Asp) rs1597066554
NM_032043.3(BRIP1):c.1550C>T (p.Pro517Leu) rs786202169
NM_032043.3(BRIP1):c.1578G>A (p.Met526Ile) rs2077668951
NM_032043.3(BRIP1):c.2459A>C (p.Gln820Pro)
NM_032043.3(BRIP1):c.2662C>G (p.His888Asp) rs757668121
NM_032043.3(BRIP1):c.5C>T (p.Ser2Phe) rs751194347
NM_032043.3(BRIP1):c.839A>G (p.Asp280Gly) rs1555609193
NM_032043.3(BRIP1):c.890A>C (p.Lys297Thr) rs28997570

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