ClinVar Miner

List of variants in gene BRIP1 reported as likely pathogenic for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 75
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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.1124_1125CA[1] (p.Gln376fs) rs587780224
NM_032043.2(BRIP1):c.1140+1G>A rs1555607628
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1340+1G>A rs1555607022
NM_032043.2(BRIP1):c.1360G>T (p.Glu454Ter) rs1555605955
NM_032043.2(BRIP1):c.1425_1429del (p.Leu475fs) rs768736851
NM_032043.2(BRIP1):c.1474-13_1475del15 rs1555603635
NM_032043.2(BRIP1):c.1474-1G>A rs1555603638
NM_032043.2(BRIP1):c.1510dup (p.Ile504fs) rs775735278
NM_032043.2(BRIP1):c.1629-1G>T rs1060501757
NM_032043.2(BRIP1):c.1794+1G>C
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619fs) rs587781985
NM_032043.2(BRIP1):c.1936-1G>C
NM_032043.2(BRIP1):c.1936-2A>C
NM_032043.2(BRIP1):c.1936-2A>G rs878855143
NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.2(BRIP1):c.205+1delG rs1057517648
NM_032043.2(BRIP1):c.205+2T>G rs1060501763
NM_032043.2(BRIP1):c.2053C>T (p.Gln685Ter) rs876659533
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.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.2(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.2(BRIP1):c.2258-1G>A rs1064793887
NM_032043.2(BRIP1):c.2273dup (p.Ala759fs) rs587780236
NM_032043.2(BRIP1):c.2341dup (p.Thr781fs) rs1555590388
NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574
NM_032043.2(BRIP1):c.2380-1G>A rs1567756032
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
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.2830C>T (p.Gln944Ter) rs140233356
NM_032043.2(BRIP1):c.2867C>G (p.Ser956Ter) rs761639530
NM_032043.2(BRIP1):c.286_289ACAA[1] (p.Asn97fs) rs763009188
NM_032043.2(BRIP1):c.2905+1G>A rs876660203
NM_032043.2(BRIP1):c.2982_2985CAAA[2] (p.Thr997fs) rs771028677
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.3240dup (p.Ala1081fs) rs779741278
NM_032043.2(BRIP1):c.3260dup (p.Asn1087fs) rs771654971
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.40A>T (p.Lys14Ter) rs1555618727
NM_032043.2(BRIP1):c.472_476AAGAA[1] (p.Lys159fs) rs1555616143
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.720del (p.Lys240fs) rs1567838246
NM_032043.2(BRIP1):c.78dup (p.Ala27fs) rs1555618709
NM_032043.2(BRIP1):c.840del (p.His281fs) rs1555609191
NM_032043.2(BRIP1):c.890del (p.Lys297fs) rs786202610
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
NM_032043.2(BRIP1):c.932_935del (p.Tyr311fs) rs1555607792

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