ClinVar Miner

List of variants in gene BRIP1 studied for Fanconi anemia complementation group A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP
NM_032043.2(BRIP1):c.*1048_*1050delTAT rs564290244
NM_032043.2(BRIP1):c.*1257_*1258delAG rs886053209
NM_032043.2(BRIP1):c.*1263A>G rs73991940
NM_032043.2(BRIP1):c.*128A>G rs150444311
NM_032043.2(BRIP1):c.*1374T>C rs59115933
NM_032043.2(BRIP1):c.*1381G>T rs886053208
NM_032043.2(BRIP1):c.*1393G>T rs754698039
NM_032043.2(BRIP1):c.*152G>T rs540229694
NM_032043.2(BRIP1):c.*158T>C rs1978111
NM_032043.2(BRIP1):c.*172G>C rs111898257
NM_032043.2(BRIP1):c.*1820C>T rs114037902
NM_032043.2(BRIP1):c.*1868G>T rs184666432
NM_032043.2(BRIP1):c.*1964T>C rs140267868
NM_032043.2(BRIP1):c.*2082_*2085delTGTC rs10601136
NM_032043.2(BRIP1):c.*2090G>C rs60657820
NM_032043.2(BRIP1):c.*2241T>C rs76889595
NM_032043.2(BRIP1):c.*2337A>T rs373664066
NM_032043.2(BRIP1):c.*2522A>G rs886053207
NM_032043.2(BRIP1):c.*2538G>A rs150080122
NM_032043.2(BRIP1):c.*2667C>T rs373156872
NM_032043.2(BRIP1):c.*2668G>A rs886053206
NM_032043.2(BRIP1):c.*2691C>G rs886053205
NM_032043.2(BRIP1):c.*2692A>G rs886053204
NM_032043.2(BRIP1):c.*2715C>T rs886053203
NM_032043.2(BRIP1):c.*280G>C rs189935192
NM_032043.2(BRIP1):c.*2811_*2815dupAAAAA rs768910110
NM_032043.2(BRIP1):c.*2812_*2815dupAAAA rs768910110
NM_032043.2(BRIP1):c.*2815_*2816insAAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2815_*2816insAGAAA rs1555571892
NM_032043.2(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.2(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.2(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.2(BRIP1):c.*283delA rs531656835
NM_032043.2(BRIP1):c.*288A>G rs886053213
NM_032043.2(BRIP1):c.*2908C>T rs549941795
NM_032043.2(BRIP1):c.*2926T>A rs886053201
NM_032043.2(BRIP1):c.*3114delT rs35235448
NM_032043.2(BRIP1):c.*3145A>G rs886053200
NM_032043.2(BRIP1):c.*3188G>A rs369850537
NM_032043.2(BRIP1):c.*3307T>C rs886053199
NM_032043.2(BRIP1):c.*339G>C rs886053212
NM_032043.2(BRIP1):c.*3450T>C rs74859843
NM_032043.2(BRIP1):c.*3479A>G rs573351550
NM_032043.2(BRIP1):c.*3488A>T rs11079454
NM_032043.2(BRIP1):c.*3489T>C rs140891191
NM_032043.2(BRIP1):c.*3514T>G rs10744996
NM_032043.2(BRIP1):c.*3617T>C rs886053198
NM_032043.2(BRIP1):c.*380C>T rs556729826
NM_032043.2(BRIP1):c.*3821A>G rs886053197
NM_032043.2(BRIP1):c.*3918C>T rs886053196
NM_032043.2(BRIP1):c.*3924T>G rs886053195
NM_032043.2(BRIP1):c.*396_*397delCT rs546666211
NM_032043.2(BRIP1):c.*4000T>C rs8077553
NM_032043.2(BRIP1):c.*421C>T rs886053211
NM_032043.2(BRIP1):c.*483C>T rs7213430
NM_032043.2(BRIP1):c.*616A>G rs116292412
NM_032043.2(BRIP1):c.*729C>T rs137967725
NM_032043.2(BRIP1):c.*900C>A rs886053210
NM_032043.2(BRIP1):c.-197C>A rs180948389
NM_032043.2(BRIP1):c.-205G>A rs2048718
NM_032043.2(BRIP1):c.-229C>G rs886053217
NM_032043.2(BRIP1):c.-237dupT rs112243287
NM_032043.2(BRIP1):c.-31+12G>A rs4988340
NM_032043.2(BRIP1):c.1474-3T>C rs552752779
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731
NM_032043.2(BRIP1):c.1774T>G (p.Trp592Gly) rs587780231
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2741T>C (p.Leu914Ser) rs886053215
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092
NM_032043.2(BRIP1):c.2811T>C (p.Asp937=) rs374335608
NM_032043.2(BRIP1):c.2829C>A (p.Val943=) rs767164240
NM_032043.2(BRIP1):c.3020C>A (p.Ser1007Tyr) rs886053214
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.3251C>G (p.Thr1084Ser) rs876660768
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=) rs4987050
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.54T>C (p.Pro18=) rs886053216
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_032043.2(BRIP1):c.93+15G>A rs113052745

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