ClinVar Miner

List of variants reported as likely pathogenic for breast disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter) rs879253880 0.00003
NM_024675.4(PALB2):c.212-2A>G rs730881879 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_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter) rs755263466 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 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.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.283C>T (p.Gln95Ter) rs587781545
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.3939_3940del (p.Glu1313fs) rs1555093684
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_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly) rs80359182
NM_000465.4(BARD1):c.1872del (p.Leu625fs) rs876659572
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer) rs587782504
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_004360.5(CDH1):c.2386del (p.Arg796fs) rs1375617541
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter) rs765929630
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs) rs1569112324
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer) rs1966967065
NM_024675.4(PALB2):c.1565del (p.Pro522fs) rs1555461217
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) rs1567214493
NM_024675.4(PALB2):c.2832_2834+4del
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs) rs1555459520
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.3297_3298insT (p.Thr1100fs) rs1567206823
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter) rs1597062038
NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs) rs2142251364
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) rs864622695
NM_032043.3(BRIP1):c.1340+1G>A rs1555607022
NM_032043.3(BRIP1):c.141del (p.Thr48fs) rs587782065
NM_032043.3(BRIP1):c.1474-1G>A rs1555603638
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2379+1G>T rs1555590286
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.646del (p.Arg216fs) rs1603347042
NM_032043.3(BRIP1):c.875del (p.Phe292fs) rs2078107930

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