ClinVar Miner

List of variants reported as likely benign for breast cancer by Counsyl

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.2834+18A>T rs114491776 0.00113
NM_024675.4(PALB2):c.909C>T (p.Leu303=) rs145788619 0.00101
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_024675.4(PALB2):c.2749-18C>T rs182194007 0.00055
NM_007194.4(CHEK2):c.793-11G>A rs5997387 0.00054
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_007194.4(CHEK2):c.444+19T>C rs200501745 0.00026
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406 0.00019
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_024675.4(PALB2):c.48+7G>C rs190626072 0.00013
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007194.4(CHEK2):c.1008+13C>T rs193264230 0.00011
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.1431C>T (p.Thr477=) rs515726068 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_007194.4(CHEK2):c.847-17T>C rs199780411 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2082A>G (p.Thr694=) rs781440401 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_024675.4(PALB2):c.2208C>A (p.Ala736=) rs369113809 0.00003
NM_007194.4(CHEK2):c.1462-20T>C rs747767986 0.00002
NM_007194.4(CHEK2):c.793-17T>C rs778511901 0.00002
NM_024675.4(PALB2):c.1839G>A (p.Gln613=) rs199682414 0.00002
NM_024675.4(PALB2):c.807T>C (p.Gly269=) rs180177093 0.00002
NM_024675.4(PALB2):c.897T>C (p.Ser299=) rs180177095 0.00002
NM_000465.4(BARD1):c.1315-21C>A rs747393586 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.1590C>T (p.Ala530=) rs786201796 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007194.4(CHEK2):c.593-9C>T rs1057517597 0.00001
NM_007194.4(CHEK2):c.908+18T>A rs755416802 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00001
NM_024675.4(PALB2):c.1662A>G (p.Glu554=) rs786202692 0.00001
NM_024675.4(PALB2):c.1685-14T>A rs780772404 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2478C>T (p.Asn826=) rs786201885 0.00001
NM_024675.4(PALB2):c.2508C>G (p.Val836=) rs786203603 0.00001
NM_024675.4(PALB2):c.2748+13C>G rs771355581 0.00001
NM_024675.4(PALB2):c.2859T>C (p.Asp953=) rs515726101 0.00001
NM_024675.4(PALB2):c.3201+20G>T rs774029323 0.00001
NM_024675.4(PALB2):c.3282G>A (p.Val1094=) rs747861082 0.00001
NM_024675.4(PALB2):c.3351-10A>G rs1057517611 0.00001
NM_024675.4(PALB2):c.3366C>T (p.Asp1122=) rs373783514 0.00001
NM_024675.4(PALB2):c.3483T>C (p.Phe1161=) rs372686500 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_024675.4(PALB2):c.660T>C (p.Ser220=) rs571762192 0.00001
NM_024675.4(PALB2):c.84C>T (p.Tyr28=) rs761533286 0.00001
NM_024675.4(PALB2):c.993A>G (p.Glu331=) rs760362870 0.00001
NM_000465.4(BARD1):c.1811-16dup rs760333316
NM_000465.4(BARD1):c.215+20T>C rs200715720
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.364+16A>G rs201219625
NM_000465.4(BARD1):c.365-8del rs776103948
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.135G>A (p.Thr45=) rs745423387
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.593-14C>G rs145754558
NM_007194.4(CHEK2):c.593-15T>A rs757717459
NM_007194.4(CHEK2):c.84C>A (p.Ser28=) rs863224415
NM_007194.4(CHEK2):c.909-28_909-20del rs1555915597
NM_024675.4(PALB2):c.1684+10G>T rs1057517620
NM_024675.4(PALB2):c.1685-7T>G rs1555460705
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.2067G>T (p.Ser689=) rs371149159
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2130G>A (p.Thr710=) rs774049060
NM_024675.4(PALB2):c.2469C>G (p.Leu823=) rs515726087
NM_024675.4(PALB2):c.2514+20_2514+21del rs750567675
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2749-16_2749-14del rs765742648
NM_024675.4(PALB2):c.423G>A (p.Gln141=) rs786202680
NM_024675.4(PALB2):c.999C>T (p.Thr333=) rs180177096

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.