ClinVar Miner

List of variants reported as likely pathogenic for breast disorder by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.3756del (p.Cys1251_Tyr1252insTer) rs2135704461
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.6819delinsGT (p.Gly2274fs) rs2137530913
NM_000059.4(BRCA2):c.7008-1_7435+372del rs2137555065
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter) rs2128672286
NM_000535.7(PMS2):c.989-85_1144+3del rs2128746806
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.731del (p.Gly244fs) rs2151021047
NM_001407314.1(PALB2):c.49-1193del rs1597091518
NM_002485.5(NBN):c.1399G>T (p.Glu467Ter) rs1554558613
NM_007194.4(CHEK2):c.1476_1480del (p.Arg493fs) rs2145750415
NM_007194.4(CHEK2):c.320-1G>T rs864622613
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+2T>C rs781021132
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_024675.4(PALB2):c.3351-150_*2del rs2142250624

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.