ClinVar Miner

List of variants in gene BRIP1 reported as likely pathogenic for Familial cancer of breast; Fanconi anemia, complementation group J

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Total variants: 43
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HGVS dbSNP
NC_000017.10:g.(?_59924462)_(59926617_?)dup
NC_000017.10:g.(?_59938802)_(59938906_?)del
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1140+1G>A rs1555607628
NM_032043.2(BRIP1):c.1340+1G>A rs1555607022
NM_032043.2(BRIP1):c.1629-1G>T rs1060501757
NM_032043.2(BRIP1):c.1794+1G>C
NM_032043.2(BRIP1):c.1936-1G>C
NM_032043.2(BRIP1):c.1936-2A>G rs878855143
NM_032043.2(BRIP1):c.205+2T>G rs1060501763
NM_032043.2(BRIP1):c.206-1G>T rs1555617934
NM_032043.2(BRIP1):c.206-2A>G rs786203700
NM_032043.2(BRIP1):c.2097+1G>C rs786202941
NM_032043.2(BRIP1):c.2097+1G>T
NM_032043.2(BRIP1):c.2258-1G>A rs1064793887
NM_032043.2(BRIP1):c.2380-1G>A rs1567756032
NM_032043.2(BRIP1):c.2492+2dupT rs587780240
NM_032043.2(BRIP1):c.2492_2492+5del
NM_032043.2(BRIP1):c.2493-1G>A rs786203451
NM_032043.2(BRIP1):c.2493-2A>G
NM_032043.2(BRIP1):c.2493-?_2575+?dup
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.2576-2A>G rs869312763
NM_032043.2(BRIP1):c.2905+1G>A rs876660203
NM_032043.2(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.2(BRIP1):c.3015dup (p.Asn1006Ter)
NM_032043.2(BRIP1):c.3196del (p.Ser1066fs) rs730881645
NM_032043.2(BRIP1):c.3208del (p.Ser1070fs) rs748598593
NM_032043.2(BRIP1):c.3230T>G (p.Leu1077Ter) rs1420431000
NM_032043.2(BRIP1):c.3310G>T (p.Glu1104Ter) rs1555572698
NM_032043.2(BRIP1):c.3328G>T (p.Glu1110Ter) rs1060501774
NM_032043.2(BRIP1):c.3386_3389CTAT[1] (p.Tyr1131fs) rs778664039
NM_032043.2(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.2(BRIP1):c.508-1G>C rs864622277
NM_032043.2(BRIP1):c.508-2A>T rs876659707
NM_032043.2(BRIP1):c.627+1G>A rs587780833
NM_032043.2(BRIP1):c.628-1G>A
NM_032043.2(BRIP1):c.628-5_629delTACAGCC rs1555609402
NM_032043.2(BRIP1):c.918+1G>A rs587781655
NM_032043.2(BRIP1):c.919-?_1140+?del
NM_032043.2(BRIP1):c.93+1G>A rs587782047
NM_032043.2(BRIP1):c.93+1G>T rs587782047
NM_032043.2(BRIP1):c.93+2T>C

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