ClinVar Miner

List of variants studied for breast carcinoma by Division of Medical Genetics, University of Washington

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 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_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser) rs587782579 0.00004
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys) rs768155385 0.00001
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val) rs778888033 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_024675.4(PALB2):c.1772C>A (p.Pro591Gln) rs761773470 0.00001
NM_024675.4(PALB2):c.2831T>G (p.Ile944Ser) rs201817103 0.00001
NM_024675.4(PALB2):c.968C>A (p.Ala323Glu) rs730881882 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys) rs754033733
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.8923G>C (p.Glu2975Gln) rs2091208125
NM_007194.4(CHEK2):c.1227CTG[1] (p.Cys410del) rs2052551741
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly) rs1555913188
NM_007194.4(CHEK2):c.1412C>T (p.Pro471Leu) rs1060502713
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) rs587780180
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg) rs730881681
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.599T>C (p.Val200Ala) rs2053696720
NM_024675.4(PALB2):c.3048del (p.Phe1016fs) rs515726104
NM_024675.4(PALB2):c.3116del (p.Asn1039fs) rs180177133

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.