ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_024675.4(PALB2):c.212-2A>G rs730881879 0.00002
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter) rs755263466 0.00001
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923 0.00001
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter) rs2091249987
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.2288_2291del (p.His762_Leu763insTer) rs876659571
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter) rs1567214493
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs) rs1555459520
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs) rs1567206823
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) rs864622695
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.646del (p.Arg216fs) rs1603347042

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