ClinVar Miner

List of variants reported as likely pathogenic for Malignant tumor of breast

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_004936.4(CDKN2B):c.*2619C>T rs1063192 0.70584
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_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 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_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
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_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NC_000016.9:g.(23634452_23635392)_(23635416_23637556)del
NC_000016.9:g.(23635363_23635382)_(23635416_23637556)del
NC_000016.9:g.(68857530_68862076)_(68863701_68867192)dup
NC_000016.9:g.(?_23614482)_(23614991_23619184)del
NC_000017.10:g.(59934593_59937230)_(59938931_59940644)del
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1528_1529insTAAG (p.Ala510fs) rs2080115075
NM_000051.4(ATM):c.2091del (p.Leu697fs)
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer) rs1555074976
NM_000051.4(ATM):c.2467-1G>A rs1328985852
NM_000051.4(ATM):c.2910_2921+10del
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs) rs1555084947
NM_000051.4(ATM):c.3542_3543del (p.Lys1181fs) rs746598992
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3631del (p.Ala1211fs) rs1064795885
NM_000051.4(ATM):c.3756del (p.Cys1251_Tyr1252insTer) rs2135704461
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6273del (p.Trp2091fs) rs1565503137
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs) rs2085200653
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.845T>G (p.Leu282Ter) rs2135242595
NM_000051.4(ATM):c.8671+1G>T rs1555139694
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.7288G>T (p.Glu2430Ter)
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly) rs80359182
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
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_004936.4(CDKN2B):c.*1346dup
NM_004936.4(CDKN2B):c.*2763G>T
NM_004936.4(CDKN2B):c.*845_*846insCA
NM_004936.4(CDKN2B):c.*845_*846insCACA
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.1451del (p.Ser483_Leu484insTer) rs1966967065
NM_024675.4(PALB2):c.1565del (p.Pro522fs) rs1555461217
NM_024675.4(PALB2):c.2832_2834+4del
NM_024675.4(PALB2):c.2834+1G>A rs587776419
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter) rs786203775
NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter) rs62625271
NM_024675.4(PALB2):c.3351-150_*2del rs2142250624
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter) rs1597062038
NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs) rs2142251364
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.2487del (p.Gly830fs)
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer) rs1603275367
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.875del (p.Phe292fs) rs2078107930

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