ClinVar Miner

List of variants reported as pathogenic for Breast carcinoma by Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter) rs377153250 0.00003
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) rs142947311 0.00002
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter) rs63751017 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.469C>T (p.Arg157Trp) rs750592289 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter) rs780001540 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter) rs770637624 0.00001
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter) rs2082559544
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter) rs1294578913
NM_000051.4(ATM):c.6527del (p.Leu2176fs) rs2136241341
NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter) rs1224883896
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000059.4(BRCA2):c.1013del (p.Ala338fs) rs2137466855
NM_000059.4(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
NM_000059.4(BRCA2):c.1364C>G (p.Ser455Ter) rs2072410817
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter) rs80358429
NM_000059.4(BRCA2):c.1507A>T (p.Lys503Ter) rs2137472200
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) rs397507683
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs) rs80359451
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5557dup (p.Cys1853fs) rs587782011
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs) rs80359526
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6469C>T (p.Gln2157Ter) rs397507859
NM_000059.4(BRCA2):c.6478C>T (p.Gln2160Ter) rs886040658
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7877G>A (p.Trp2626Ter) rs587781506
NM_000059.4(BRCA2):c.8395del (p.Arg2799fs) rs80359709
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.9027del (p.His3010fs) rs80359742
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9118-1G>C rs886040950
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) rs398122618
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer) rs1114167702
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs) rs1553333072
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.4(MLH1):c.393del (p.Asp132fs) rs2081922847
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.3(MSH2):c.482T>C (p.Val161Ala) rs63750126
NM_000314.8(PTEN):c.204C>A (p.Tyr68Ter) rs773176120
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer) rs146650273
NM_000465.4(BARD1):c.1903+2T>C rs1574737047
NM_000535.7(PMS2):c.23+1G>A rs587782074
NM_000546.6(TP53):c.672+1G>T rs863224499
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.378+1G>T rs1645259682
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002485.5(NBN):c.966C>G (p.Tyr322Ter) rs748453607
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.847-1G>A rs878854926
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs) rs398122653
NM_007294.4(BRCA1):c.2536G>T (p.Glu846Ter) rs786203523
NM_007294.4(BRCA1):c.2802del (p.Asp936fs) rs2053694038
NM_007294.4(BRCA1):c.2952del (p.Ile986fs) rs80357627
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter) rs80357004
NM_007294.4(BRCA1):c.3626dup (p.Leu1209fs) rs80357571
NM_007294.4(BRCA1):c.3770_3771del (p.Glu1257fs) rs80357579
NM_007294.4(BRCA1):c.3794del (p.Asn1265fs) rs80357767
NM_007294.4(BRCA1):c.4062_4066del (p.Asn1354fs) rs886040192
NM_007294.4(BRCA1):c.4818del (p.Val1607fs) rs1555580883
NM_007294.4(BRCA1):c.4936del (p.Val1646fs) rs80357653
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5241del (p.Gly1748fs) rs80357791
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr) rs397509246
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer) rs886040319
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.507+1G>T rs2145761239
NM_058216.3(RAD51C):c.907G>T (p.Glu303Ter) rs2143961266

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.