ClinVar Miner

List of variants reported as uncertain significance for Familial cancer of breast by MGZ Medical Genetics Center

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ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00025
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00010
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00010
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) rs587782333 0.00009
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln) rs3218670 0.00004
NM_000059.4(BRCA2):c.476-3C>A rs371431745 0.00004
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr) rs587780030 0.00004
NM_007194.4(CHEK2):c.400G>C (p.Asp134His) rs372874441 0.00004
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser) rs377085677 0.00004
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00004
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7999A>G (p.Met2667Val) rs34099398 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00002
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu) rs567344545 0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_000051.4(ATM):c.2377-6T>A rs876660963 0.00001
NM_000051.4(ATM):c.2564T>C (p.Met855Thr) rs587779824 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr) rs746265230 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3992A>G (p.Gln1331Arg) rs876658669 0.00001
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val) rs778632065 0.00001
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr) rs776309355 0.00001
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr) rs1060501557 0.00001
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val) rs755973863 0.00001
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe) rs730881380 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile) rs142322668 0.00001
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln) rs398122587 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile) rs80359094 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000465.4(BARD1):c.1922G>A (p.Arg641Gln) rs752870879 0.00001
NM_000465.4(BARD1):c.47C>T (p.Ser16Phe) rs1326565823 0.00001
NM_000465.4(BARD1):c.760A>C (p.Ile254Leu) rs879253984 0.00001
NM_000465.4(BARD1):c.944C>T (p.Pro315Leu) rs148760338 0.00001
NM_000465.4(BARD1):c.965G>A (p.Arg322His) rs774251286 0.00001
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp) rs864622198 0.00001
NM_007194.4(CHEK2):c.-6-4T>C rs2054342764 0.00001
NM_007194.4(CHEK2):c.1233G>C (p.Trp411Cys) rs1064796572 0.00001
NM_007194.4(CHEK2):c.1450C>A (p.Pro484Thr) rs548850521 0.00001
NM_007194.4(CHEK2):c.520C>T (p.Leu174Phe) rs876659400 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.5153-26A>G rs80358109 0.00001
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn) rs273902779 0.00001
NM_024675.4(PALB2):c.155T>C (p.Val52Ala) rs373970237 0.00001
NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser) rs146455175 0.00001
NM_024675.4(PALB2):c.2677G>T (p.Asp893Tyr) rs765077104 0.00001
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg) rs773831304 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg) rs748912293 0.00001
NM_032043.3(BRIP1):c.823A>G (p.Ile275Val) rs587781425 0.00001
NM_000051.4(ATM):c.1168G>A (p.Glu390Lys) rs876660106
NM_000051.4(ATM):c.125A>T (p.His42Leu) rs201773026
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln) rs779780896
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.4(ATM):c.2235A>T (p.Leu745Phe) rs2497360787
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.4(ATM):c.359T>C (p.Leu120Pro) rs1555059081
NM_000051.4(ATM):c.359T>G (p.Leu120Arg) rs1555059081
NM_000051.4(ATM):c.4156A>G (p.Ile1386Val) rs1555096895
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys) rs1369272813
NM_000051.4(ATM):c.5081C>T (p.Ala1694Val) rs587782551
NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala) rs1060501607
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys) rs754562056
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn) rs730881378
NM_000051.4(ATM):c.6348-8T>A rs730881292
NM_000051.4(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile) rs1266101531
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.8792G>C (p.Cys2931Ser) rs1060501563
NM_000051.4(ATM):c.937T>C (p.Tyr313His) rs2135265501
NM_000059.4(BRCA2):c.317-8T>C rs2548513921
NM_000059.4(BRCA2):c.7828G>A (p.Val2610Met) rs587780661
NM_000059.4(BRCA2):c.7977-6T>C rs2137579507
NM_000059.4(BRCA2):c.830A>G (p.Asn277Ser) rs1419882645
NM_000059.4(BRCA2):c.8819A>G (p.Lys2940Arg) rs200157227
NM_000059.4(BRCA2):c.8844T>G (p.Ile2948Met) rs1064793691
NM_000059.4(BRCA2):c.9211G>A (p.Glu3071Lys) rs1593938141
NM_000059.4(BRCA2):c.9290G>A (p.Cys3097Tyr) rs730881570
NM_000465.4(BARD1):c.1066A>T (p.Asn356Tyr) rs1574817638
NM_000465.4(BARD1):c.13C>T (p.Arg5Trp) rs766441081
NM_000465.4(BARD1):c.1810G>T (p.Val604Leu) rs1553615089
NM_000465.4(BARD1):c.2195T>G (p.Phe732Cys) rs760201905
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1]) rs587781979
NM_000465.4(BARD1):c.743T>A (p.Val248Asp) rs2469508983
NM_004360.5(CDH1):c.1103C>G (p.Thr368Ser) rs367868307
NM_004360.5(CDH1):c.1169A>G (p.Asn390Ser) rs964044070
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile) rs587780118
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1350A>C (p.Glu450Asp) rs2517795527
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.1555C>G (p.Arg519Gly) rs200432447
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys) rs756949505
NM_007194.4(CHEK2):c.396A>T (p.Arg132Ser) rs1601825496
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007294.4(BRCA1):c.4096+4T>C rs1597859326
NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly) rs757726297
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala) rs397509219
NM_007294.4(BRCA1):c.547+6G>A rs1400635407
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys) rs200048921
NM_024675.4(PALB2):c.1523C>G (p.Pro508Arg) rs2142413565
NM_024675.4(PALB2):c.1538C>A (p.Thr513Lys) rs778890869
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.305T>C (p.Val102Ala) rs1313838988
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.659G>A (p.Ser220Asn) rs2142438106
NM_024675.4(PALB2):c.689A>C (p.Glu230Ala) rs1567222506
NM_024675.4(PALB2):c.758T>C (p.Leu253Pro) rs2142435363
NM_032043.3(BRIP1):c.1336A>T (p.Ile446Phe) rs786203496
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn) rs1555573413
NM_032043.3(BRIP1):c.93+5G>A rs730881629
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser) rs876659057

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