ClinVar Miner

List of variants studied for Familial cancer of breast by MGZ Medical Genetics Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 313
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
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 0.00024
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 0.00016
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) rs587782333 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712 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_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 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_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_024675.4(PALB2):c.2773G>C (p.Val925Leu) rs180177125 0.00005
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
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_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000059.4(BRCA2):c.476-3C>A rs371431745 0.00004
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896 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_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7999A>G (p.Met2667Val) rs34099398 0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723 0.00003
NM_000059.4(BRCA2):c.6847C>G (p.Pro2283Ala) rs80358909 0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 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_032043.3(BRIP1):c.728T>C (p.Ile243Thr) rs587781860 0.00003
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.353G>A (p.Arg118His) rs80358603 0.00002
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu) rs80358887 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007294.4(BRCA1):c.2808T>G (p.Asp936Glu) rs730881485 0.00002
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp) rs80357176 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 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.3478G>C (p.Val1160Leu) rs567344545 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.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile) rs1266101531 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 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_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
NM_000059.4(BRCA2):c.10054C>G (p.Leu3352Val) rs1475702169 0.00001
NM_000059.4(BRCA2):c.1124C>T (p.Pro375Leu) rs80358409 0.00001
NM_000059.4(BRCA2):c.1159G>T (p.Val387Phe) rs869320791 0.00001
NM_000059.4(BRCA2):c.2599A>G (p.Thr867Ala) rs80358522 0.00001
NM_000059.4(BRCA2):c.3085A>G (p.Met1029Val) rs80358553 0.00001
NM_000059.4(BRCA2):c.4685A>C (p.Gln1562Pro) rs544688816 0.00001
NM_000059.4(BRCA2):c.5164_5165del (p.Ser1722fs) rs80359490 0.00001
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217 0.00001
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe) rs779967765 0.00001
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301 0.00001
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873 0.00001
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe) rs765575482 0.00001
NM_000059.4(BRCA2):c.6772G>A (p.Glu2258Lys) rs730881549 0.00001
NM_000059.4(BRCA2):c.7222C>T (p.Pro2408Ser) rs398122577 0.00001
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile) rs80358990 0.00001
NM_000059.4(BRCA2):c.7651A>C (p.Lys2551Gln) rs398122587 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 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_000059.4(BRCA2):c.8798G>C (p.Arg2933Thr) rs553440338 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.959T>C (p.Leu320Pro) rs1334767632 0.00001
NM_000059.4(BRCA2):c.9983T>G (p.Phe3328Cys) rs770826575 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.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.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.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007294.4(BRCA1):c.2362G>A (p.Val788Ile) rs80357060 0.00001
NM_007294.4(BRCA1):c.2765C>G (p.Thr922Arg) rs80357460 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4417T>C (p.Ser1473Pro) rs398122686 0.00001
NM_007294.4(BRCA1):c.5585A>T (p.His1862Leu) rs80357183 0.00001
NM_007294.4(BRCA1):c.655G>A (p.Asp219Asn) rs273902779 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.2273dup (p.Ala759fs) rs587780236 0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 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)
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
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)
NM_000051.4(ATM):c.2377-6T>A rs876660963
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr) rs746265230
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.4(ATM):c.3569del (p.Val1190fs)
NM_000051.4(ATM):c.359T>C (p.Leu120Pro) rs1555059081
NM_000051.4(ATM):c.359T>G (p.Leu120Arg)
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.4156A>G (p.Ile1386Val) rs1555096895
NM_000051.4(ATM):c.4227del (p.Ser1411fs) rs587782054
NM_000051.4(ATM):c.4236+2T>C
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys) rs1369272813
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4965del (p.Lys1656fs)
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.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6348-8T>A
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) rs864622416
NM_000051.4(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.8291dup (p.Ser2764fs)
NM_000051.4(ATM):c.8787-2A>G rs2089688512
NM_000051.4(ATM):c.8792G>C (p.Cys2931Ser) rs1060501563
NM_000051.4(ATM):c.895G>T (p.Glu299Ter)
NM_000051.4(ATM):c.937T>C (p.Tyr313His)
NM_000059.4(BRCA2):c.10072G>A (p.Gly3358Arg) rs1593202253
NM_000059.4(BRCA2):c.1117C>A (p.Gln373Lys)
NM_000059.4(BRCA2):c.1337dup (p.Leu446fs)
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1942T>A (p.Ser648Thr) rs1593895835
NM_000059.4(BRCA2):c.2024C>G (p.Thr675Arg) rs80358484
NM_000059.4(BRCA2):c.2091A>C (p.Lys697Asn) rs876659230
NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His) rs587778125
NM_000059.4(BRCA2):c.2743A>T (p.Thr915Ser)
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val) rs786201837
NM_000059.4(BRCA2):c.305A>G (p.Lys102Arg) rs80358549
NM_000059.4(BRCA2):c.317-8T>C
NM_000059.4(BRCA2):c.3503T>C (p.Met1168Thr) rs80358598
NM_000059.4(BRCA2):c.3521G>A (p.Gly1174Asp) rs1555283272
NM_000059.4(BRCA2):c.3524A>G (p.Gln1175Arg)
NM_000059.4(BRCA2):c.362A>T (p.Lys121Ile)
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs) rs34575057
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp) rs777028631
NM_000059.4(BRCA2):c.3767A>G (p.His1256Arg) rs80358618
NM_000059.4(BRCA2):c.3836A>G (p.Asn1279Ser) rs1060502384
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.397C>A (p.Pro133Thr) rs571823764
NM_000059.4(BRCA2):c.3del (p.Met1fs) rs80359418
NM_000059.4(BRCA2):c.4028A>G (p.Lys1343Arg)
NM_000059.4(BRCA2):c.4059A>C (p.Glu1353Asp)
NM_000059.4(BRCA2):c.454A>G (p.Thr152Ala) rs886037806
NM_000059.4(BRCA2):c.4644A>C (p.Glu1548Asp)
NM_000059.4(BRCA2):c.464G>A (p.Arg155Lys) rs377639990
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5081G>A (p.Arg1694Lys) rs753721331
NM_000059.4(BRCA2):c.5386G>T (p.Asp1796Tyr) rs1064793715
NM_000059.4(BRCA2):c.5860A>G (p.Thr1954Ala) rs1566233345
NM_000059.4(BRCA2):c.5987C>G (p.Ala1996Gly) rs80358834
NM_000059.4(BRCA2):c.6034T>C (p.Ser2012Pro)
NM_000059.4(BRCA2):c.6144T>G (p.Asn2048Lys) rs587782775
NM_000059.4(BRCA2):c.622G>C (p.Val208Leu) rs1593887544
NM_000059.4(BRCA2):c.631+7A>G rs431825339
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu) rs397507859
NM_000059.4(BRCA2):c.6742C>T (p.His2248Tyr)
NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val) rs80358908
NM_000059.4(BRCA2):c.6884G>C (p.Arg2295Thr) rs1555285151
NM_000059.4(BRCA2):c.6916G>C (p.Ala2306Pro) rs730881550
NM_000059.4(BRCA2):c.7033C>G (p.Gln2345Glu) rs886040685
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln) rs370708814
NM_000059.4(BRCA2):c.7297C>T (p.Gln2433Ter)
NM_000059.4(BRCA2):c.7301del (p.Lys2434fs) rs786202441
NM_000059.4(BRCA2):c.7531dup (p.Tyr2511fs)
NM_000059.4(BRCA2):c.7828G>A (p.Val2610Met) rs587780661
NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter) rs80359025
NM_000059.4(BRCA2):c.7977-6T>C
NM_000059.4(BRCA2):c.830A>G (p.Asn277Ser)
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.9195_9196delinsAT (p.Phe3065_Gln3066delinsLeuTer) rs876659047
NM_000059.4(BRCA2):c.9211G>A (p.Glu3071Lys)
NM_000059.4(BRCA2):c.9290G>A (p.Cys3097Tyr) rs730881570
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000059.4(BRCA2):c.9749C>T (p.Ser3250Leu)
NM_000059.4(BRCA2):c.9998T>C (p.Leu3333Pro) rs1555290016
NM_000465.4(BARD1):c.1066A>T (p.Asn356Tyr) rs1574817638
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
NM_000465.4(BARD1):c.13C>T (p.Arg5Trp) rs766441081
NM_000465.4(BARD1):c.1810G>T (p.Val604Leu)
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.216-1G>C
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.672del (p.Glu225fs)
NM_000465.4(BARD1):c.743T>A (p.Val248Asp)
NM_000465.4(BARD1):c.760A>C (p.Ile254Leu) rs879253984
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.-6-4T>C
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1350A>C (p.Glu450Asp)
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.1555C>G (p.Arg519Gly)
NM_007194.4(CHEK2):c.277del (p.Trp93fs) rs786203458
NM_007194.4(CHEK2):c.342G>T (p.Trp114Cys) rs756949505
NM_007194.4(CHEK2):c.396A>T (p.Arg132Ser)
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.445-8_446del rs2146062270
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007194.4(CHEK2):c.847-14_847-2del rs1293617484
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007294.4(BRCA1):c.*39G>A
NM_007294.4(BRCA1):c.1099A>G (p.Thr367Ala) rs878854929
NM_007294.4(BRCA1):c.1119A>G (p.Ile373Met)
NM_007294.4(BRCA1):c.1232A>T (p.Asp411Val) rs730881469
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1824_1826del (p.Lys608del) rs587781614
NM_007294.4(BRCA1):c.2069A>G (p.Lys690Arg) rs2154401162
NM_007294.4(BRCA1):c.2079C>G (p.Asp693Glu)
NM_007294.4(BRCA1):c.2663A>T (p.His888Leu) rs876658843
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys) rs80357124
NM_007294.4(BRCA1):c.3058C>T (p.Pro1020Ser)
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3365C>T (p.Thr1122Ile) rs2053599251
NM_007294.4(BRCA1):c.3681A>T (p.Gln1227His) rs730881488
NM_007294.4(BRCA1):c.3728G>C (p.Arg1243Thr)
NM_007294.4(BRCA1):c.4096+4T>C rs1597859326
NM_007294.4(BRCA1):c.4273C>T (p.Pro1425Ser) rs768327850
NM_007294.4(BRCA1):c.4445A>G (p.Asp1482Gly) rs757726297
NM_007294.4(BRCA1):c.4450T>A (p.Ser1484Thr) rs80357404
NM_007294.4(BRCA1):c.4697C>A (p.Ser1566Tyr) rs1060502325
NM_007294.4(BRCA1):c.4921G>T (p.Ala1641Ser) rs1800726
NM_007294.4(BRCA1):c.5071A>G (p.Thr1691Ala) rs397509219
NM_007294.4(BRCA1):c.5153-26A>G rs80358109
NM_007294.4(BRCA1):c.523A>G (p.Lys175Glu) rs1567806027
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser) rs398122698
NM_007294.4(BRCA1):c.547+6G>A rs1400635407
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala) rs397509298
NM_007294.4(BRCA1):c.678T>A (p.Cys226Ter) rs397509308
NM_007294.4(BRCA1):c.724A>G (p.Ser242Gly) rs1555593258
NM_007294.4(BRCA1):c.804C>G (p.Asn268Lys) rs771076131
NM_007294.4(BRCA1):c.811G>C (p.Val271Leu) rs80357244
NM_007294.4(BRCA1):c.827C>T (p.Thr276Ile)
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys) rs200048921
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter) rs1555461386
NM_024675.4(PALB2):c.1523C>G (p.Pro508Arg)
NM_024675.4(PALB2):c.1538C>A (p.Thr513Lys) rs778890869
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs) rs2142412914
NM_024675.4(PALB2):c.155T>C (p.Val52Ala) rs373970237
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter) rs760094988
NM_024675.4(PALB2):c.1947dup (p.Glu650fs) rs515726075
NM_024675.4(PALB2):c.211+1G>T rs1555462026
NM_024675.4(PALB2):c.2298_2301del (p.Cys768fs) rs1597089434
NM_024675.4(PALB2):c.2470dup (p.Cys824fs) rs863224521
NM_024675.4(PALB2):c.2561A>G (p.Asn854Ser) rs146455175
NM_024675.4(PALB2):c.305T>C (p.Val102Ala) rs1313838988
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
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.757_758del (p.Leu253fs) rs180177092
NM_024675.4(PALB2):c.758T>C (p.Leu253Pro)
NM_024675.4(PALB2):c.76del (p.Arg26fs) rs1597101885
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
NM_032043.3(BRIP1):c.1336A>T (p.Ile446Phe)
NM_032043.3(BRIP1):c.205+5G>T rs2078948368
NM_032043.3(BRIP1):c.2710G>A (p.Asp904Asn) rs1555573413
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter) rs863224802
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg) rs748912293
NM_032043.3(BRIP1):c.93+5G>A rs730881629
NM_032043.3(BRIP1):c.983T>C (p.Phe328Ser) rs876659057

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