ClinVar Miner

List of variants in gene BRIP1 reported as likely benign for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
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HGVS dbSNP
NM_032043.2(BRIP1):c.*1263A>G rs73991940
NM_032043.2(BRIP1):c.*1374T>C rs59115933
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.*1964T>C rs140267868
NM_032043.2(BRIP1):c.*2082_*2085del rs10601136
NM_032043.2(BRIP1):c.*2090G>C rs60657820
NM_032043.2(BRIP1):c.*2241T>C rs76889595
NM_032043.2(BRIP1):c.*2538G>A rs150080122
NM_032043.2(BRIP1):c.*280G>C rs189935192
NM_032043.2(BRIP1):c.*283del rs531656835
NM_032043.2(BRIP1):c.*3114del rs35235448
NM_032043.2(BRIP1):c.*3450T>C rs74859843
NM_032043.2(BRIP1):c.*3488A>T rs11079454
NM_032043.2(BRIP1):c.*3514T>G rs10744996
NM_032043.2(BRIP1):c.*4000T>C rs8077553
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.-197C>A rs180948389
NM_032043.2(BRIP1):c.-205G>A rs2048718
NM_032043.2(BRIP1):c.-31+12G>A rs4988340
NM_032043.2(BRIP1):c.1050T>C (p.Cys350=) rs1555607717
NM_032043.2(BRIP1):c.1140+11G>A rs369153270
NM_032043.2(BRIP1):c.1188T>C (p.His396=) rs1555607189
NM_032043.2(BRIP1):c.1200C>T (p.Asp400=) rs1555607173
NM_032043.2(BRIP1):c.1207C>A (p.Arg403=) rs369631413
NM_032043.2(BRIP1):c.1296G>A (p.Lys432=) rs757400610
NM_032043.2(BRIP1):c.1332C>T (p.Ser444=) rs200581792
NM_032043.2(BRIP1):c.1340+7A>T rs755399646
NM_032043.2(BRIP1):c.1340+9A>T rs376487588
NM_032043.2(BRIP1):c.1341-8_1341-4delTATTT rs1555605965
NM_032043.2(BRIP1):c.1371A>G (p.Val457=) rs935612010
NM_032043.2(BRIP1):c.1455T>C (p.Ala485=) rs773489367
NM_032043.2(BRIP1):c.1615A>C (p.Arg539=) rs1555603468
NM_032043.2(BRIP1):c.1626C>T (p.Ser542=) rs373709958
NM_032043.2(BRIP1):c.1629-11T>C rs375710640
NM_032043.2(BRIP1):c.1629-500G>A rs1057517645
NM_032043.2(BRIP1):c.1686T>C (p.Ile562=) rs1374464175
NM_032043.2(BRIP1):c.1728T>C (p.Asn576=) rs1555602531
NM_032043.2(BRIP1):c.1795-9T>G rs777006706
NM_032043.2(BRIP1):c.1797C>G (p.Ala599=) rs771672834
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=) rs145796331
NM_032043.2(BRIP1):c.1935+11G>A rs79121306
NM_032043.2(BRIP1):c.1935+11_1935+13delGTT rs730881641
NM_032043.2(BRIP1):c.195A>G (p.Gln65=) rs141436143
NM_032043.2(BRIP1):c.1971T>G (p.Gly657=) rs1555601157
NM_032043.2(BRIP1):c.2061G>C (p.Val687=) rs112414873
NM_032043.2(BRIP1):c.2085G>A (p.Leu695=) rs1555601008
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2097+8A>C rs730881642
NM_032043.2(BRIP1):c.2154G>A (p.Glu718=) rs1057523978
NM_032043.2(BRIP1):c.2223G>T (p.Val741=) rs1057522996
NM_032043.2(BRIP1):c.2232C>T (p.Asp744=) rs374362388
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2238C>T (p.Ile746=) rs876660416
NM_032043.2(BRIP1):c.2262A>T (p.Gly754=) rs1060504324
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2373T>C (p.Asp791=) rs876659615
NM_032043.2(BRIP1):c.2379+9T>C rs1555590278
NM_032043.2(BRIP1):c.2412T>C (p.His804=) rs1555580913
NM_032043.2(BRIP1):c.2556C>T (p.Asn852=) rs876658785
NM_032043.2(BRIP1):c.2562T>C (p.Ser854=) rs1555574734
NM_032043.2(BRIP1):c.2576-17T>G rs1057517647
NM_032043.2(BRIP1):c.2576-7T>A rs759408257
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.267A>T (p.Ala89=) rs764027029
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.2814A>G (p.Glu938=) rs1555573311
NM_032043.2(BRIP1):c.2883C>T (p.Ser961=) rs367728797
NM_032043.2(BRIP1):c.2906-8A>G rs1555573005
NM_032043.2(BRIP1):c.2907T>C (p.Asn969=) rs1555572999
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=) rs75091137
NM_032043.2(BRIP1):c.294T>C (p.Asn98=) rs1555617859
NM_032043.2(BRIP1):c.297C>T (p.Asp99=) rs201617644
NM_032043.2(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.2(BRIP1):c.3051G>A (p.Pro1017=) rs776990704
NM_032043.2(BRIP1):c.3087T>C (p.Ser1029=) rs1555572848
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=) rs202228407
NM_032043.2(BRIP1):c.312T>G (p.Thr104=) rs769190318
NM_032043.2(BRIP1):c.3165C>T (p.Ser1055=) rs1447544706
NM_032043.2(BRIP1):c.3174G>C (p.Leu1058=) rs1555572806
NM_032043.2(BRIP1):c.3183C>T (p.Asn1061=) rs1555572792
NM_032043.2(BRIP1):c.3189G>A (p.Ser1063=) rs878855152
NM_032043.2(BRIP1):c.3225A>T (p.Ser1075=) rs1291039468
NM_032043.2(BRIP1):c.3279C>G (p.Leu1093=) rs1555572722
NM_032043.2(BRIP1):c.3336T>C (p.Asp1112=) rs369843642
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.3504A>G (p.Lys1168=) rs1259866317
NM_032043.2(BRIP1):c.3552A>G (p.Glu1184=) rs1057522561
NM_032043.2(BRIP1):c.3579A>G (p.Thr1193=) rs1060504331
NM_032043.2(BRIP1):c.36G>T (p.Gly12=) rs45566938
NM_032043.2(BRIP1):c.3741T>A (p.Gly1247=) rs1555572413
NM_032043.2(BRIP1):c.380-24dup rs545021924
NM_032043.2(BRIP1):c.420T>C (p.Ala140=) rs1555616190
NM_032043.2(BRIP1):c.462T>C (p.Phe154=) rs1555616156
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.2(BRIP1):c.543C>T (p.His181=) rs1285947952
NM_032043.2(BRIP1):c.570A>G (p.Gly190=) rs1368897810
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.595C>T (p.Leu199=) rs144969738
NM_032043.2(BRIP1):c.612C>G (p.Ser204=) rs587780832
NM_032043.2(BRIP1):c.696C>T (p.Thr232=) rs772957320
NM_032043.2(BRIP1):c.702G>A (p.Lys234=) rs45512798
NM_032043.2(BRIP1):c.786G>A (p.Glu262=) rs876658312
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp) rs28997569
NM_032043.2(BRIP1):c.843T>C (p.His281=) rs1555609187
NM_032043.2(BRIP1):c.852C>T (p.Val284=) rs144940449
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_032043.2(BRIP1):c.918+7A>G rs1060504329
NM_032043.2(BRIP1):c.919-10T>G rs748497834
NM_032043.2(BRIP1):c.921A>G (p.Gly307=) rs786202337
NM_032043.2(BRIP1):c.93+15G>A rs113052745
NM_032043.2(BRIP1):c.969C>T (p.His323=) rs1555607775
NM_032043.2(BRIP1):c.978G>A (p.Gln326=) rs1555607764

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