ClinVar Miner

List of variants in gene BRIP1 reported as pathogenic for Fanconi anemia

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NC_000017.11:g.(?_61683286)_(61716073_?)del
NC_000017.11:g.(?_61683290)_(61684146_?)del
NC_000017.11:g.(?_61743007)_(61808763_?)del
NC_000017.11:g.(?_61776395)_(61801480_?)del
NC_000017.11:g.(?_61847101)_(61849256_?)del
NC_000017.11:g.(?_61857052)_(61861545_?)del
NC_000017.11:g.(?_61859786)_(61861549_?)del
NM_032043.2(BRIP1):c.-31+498_187del
NM_032043.2(BRIP1):c.1018_1019insCT (p.Leu340Profs) rs878855134
NM_032043.2(BRIP1):c.103G>T (p.Gly35Ter) rs373104267
NM_032043.2(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097
NM_032043.2(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633
NM_032043.2(BRIP1):c.1072_1087delCTAATACAAGATGCTG (p.Leu358Thrfs)
NM_032043.2(BRIP1):c.1109_1110dup (p.Tyr371Thrfs)
NM_032043.2(BRIP1):c.1126_1127delCA (p.Gln376Asnfs) rs587780224
NM_032043.2(BRIP1):c.1162C>T (p.Gln388Ter)
NM_032043.2(BRIP1):c.1204_1205insTGTG (p.Ala402Valfs) rs730881647
NM_032043.2(BRIP1):c.1236delA (p.Val413Phefs) rs863224525
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.1315C>T (p.Arg439Ter) rs587780226
NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter) rs775171520
NM_032043.2(BRIP1):c.1372G>T (p.Glu458Ter) rs587780228
NM_032043.2(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
NM_032043.2(BRIP1):c.1414G>T (p.Glu472Ter) rs1555605902
NM_032043.2(BRIP1):c.1495C>T (p.Gln499Ter) rs1060501739
NM_032043.2(BRIP1):c.1510delA (p.Ile504Serfs) rs775735278
NM_032043.2(BRIP1):c.1510dupA (p.Ile504Asnfs) rs775735278
NM_032043.2(BRIP1):c.1537delG (p.Ala513Glnfs)
NM_032043.2(BRIP1):c.1594dup (p.Met532Asnfs) rs1339743866
NM_032043.2(BRIP1):c.1661delA (p.Gln554Argfs)
NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567Ilefs) rs878855140
NM_032043.2(BRIP1):c.1702_1703delAA (p.Asn568Trpfs) rs1057519365
NM_032043.2(BRIP1):c.1791delT (p.Val598Trpfs)
NM_032043.2(BRIP1):c.1831delG (p.Val611Phefs)
NM_032043.2(BRIP1):c.1853_1854insG (p.Pro619Thrfs) rs587781985
NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321
NM_032043.2(BRIP1):c.1918_1919delAT (p.Ile640Hisfs) rs1555602127
NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter) rs575595017
NM_032043.2(BRIP1):c.1941G>A (p.Trp647Ter) rs786202760
NM_032043.2(BRIP1):c.1970delG (p.Gly657Valfs) rs760782298
NM_032043.2(BRIP1):c.2010dupT (p.Glu671Terfs) rs775537066
NM_032043.2(BRIP1):c.2038_2039delTT (p.Leu680Valfs) rs587778134
NM_032043.2(BRIP1):c.2038_2039dupTT (p.Leu680Phefs) rs587778134
NM_032043.2(BRIP1):c.2108delAinsTCC (p.Lys703Ilefs) rs786203384
NM_032043.2(BRIP1):c.210delA (p.Lys70Asnfs) rs1555617925
NM_032043.2(BRIP1):c.2111T>A (p.Leu704Ter) rs1057517643
NM_032043.2(BRIP1):c.2114_2118delAAGAA (p.Lys705Thrfs) rs864622611
NM_032043.2(BRIP1):c.2133delT (p.Gly712Valfs)
NM_032043.2(BRIP1):c.2138T>G (p.Leu713Ter) rs878855145
NM_032043.2(BRIP1):c.2205dup (p.Asp736Terfs) rs1555591385
NM_032043.2(BRIP1):c.2221dup (p.Val741Glyfs)
NM_032043.2(BRIP1):c.2223_2225dup (p.Tyr742_Ser1076delinsTer) rs1310861578
NM_032043.2(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.2(BRIP1):c.2255_2256delAA (p.Lys752Argfs) rs730881649
NM_032043.2(BRIP1):c.2273dupT (p.Ala759Serfs) rs587780236
NM_032043.2(BRIP1):c.2377C>T (p.Gln793Ter) rs587782574
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.2(BRIP1):c.2464dup (p.Tyr822Leufs) rs1483527885
NM_032043.2(BRIP1):c.2479C>T (p.Gln827Ter) rs786203898
NM_032043.2(BRIP1):c.2517G>A (p.Trp839Ter) rs1555574803
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.2589G>A (p.Trp863Ter) rs1555573497
NM_032043.2(BRIP1):c.2605C>T (p.Gln869Ter)
NM_032043.2(BRIP1):c.2640delC (p.Leu881Trpfs)
NM_032043.2(BRIP1):c.2684_2687delCCAT (p.Ser895Terfs) rs760551339
NM_032043.2(BRIP1):c.270C>A (p.Cys90Ter) rs1060501740
NM_032043.2(BRIP1):c.2732dupT (p.Thr912Aspfs) rs752780954
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.2786_2789delTATC (p.Leu929Hisfs) rs1295703239
NM_032043.2(BRIP1):c.2786_2789dupTATC (p.Pro931Ilefs) rs1295703239
NM_032043.2(BRIP1):c.2792delC (p.Pro931Glnfs) rs1555573327
NM_032043.2(BRIP1):c.290_293delACAA (p.Asn97Metfs) rs763009188
NM_032043.2(BRIP1):c.2947delA (p.Ile983Leufs) rs774684620
NM_032043.2(BRIP1):c.2947dupA (p.Ile983Asnfs) rs774684620
NM_032043.2(BRIP1):c.2990_2993delCAAA (p.Thr997Argfs) rs771028677
NM_032043.2(BRIP1):c.2992_2995delAAGA (p.Lys998Glufs) rs786203717
NM_032043.2(BRIP1):c.30del (p.Ile10Metfs)
NM_032043.2(BRIP1):c.358_361dup (p.Thr121Argfs)
NM_032043.2(BRIP1):c.394dupA (p.Thr132Asnfs) rs587781416
NM_032043.2(BRIP1):c.440dupA (p.Tyr147Terfs) rs786203521
NM_032043.2(BRIP1):c.448G>T (p.Glu150Ter) rs762701532
NM_032043.2(BRIP1):c.462dup (p.Gln155Serfs)
NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.2(BRIP1):c.46delT (p.Tyr16Thrfs) rs876660613
NM_032043.2(BRIP1):c.477_481delAAGAA (p.Lys159Asnfs) rs1555616143
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) rs747604569
NM_032043.2(BRIP1):c.514A>T (p.Lys172Ter)
NM_032043.2(BRIP1):c.548delT (p.Leu183Trpfs) rs1060501778
NM_032043.2(BRIP1):c.55dup (p.Tyr19Leufs)
NM_032043.2(BRIP1):c.632delC (p.Pro211Leufs) rs1060501779
NM_032043.2(BRIP1):c.633delT (p.Gly212Alafs) rs779466229
NM_032043.2(BRIP1):c.68dupC (p.Ser24Valfs) rs1555618716
NM_032043.2(BRIP1):c.840delT (p.His281Ilefs) rs1555609191
NM_032043.2(BRIP1):c.890delA (p.Lys297Serfs) rs786202610
NM_032043.2(BRIP1):c.918delC (p.Asn306Lysfs) rs1555609116
NM_032043.2(BRIP1):c.939T>G (p.Tyr313Ter)
NM_032043.2(BRIP1):c.94-7_178dup rs1555618396

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