ClinVar Miner

List of variants in gene BRIP1 reported as pathogenic by GeneDx

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Total variants: 45
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HGVS dbSNP
NM_032043.2(BRIP1):c.1066C>T (p.Arg356Ter) rs730881633
NM_032043.2(BRIP1):c.1126_1127delCA (p.Gln376Asnfs) rs587780224
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.1372G>T (p.Glu458Ter) rs587780228
NM_032043.2(BRIP1):c.1383T>G (p.Tyr461Ter) rs587780875
NM_032043.2(BRIP1):c.141delC (p.Thr48Glnfs) rs587782065
NM_032043.2(BRIP1):c.1510dupA (p.Ile504Asnfs) rs775735278
NM_032043.2(BRIP1):c.1543delG (p.Glu515Lysfs) rs1064793812
NM_032043.2(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Lys567Ilefs) rs878855140
NM_032043.2(BRIP1):c.1871C>A (p.Ser624Ter) rs587781321
NM_032043.2(BRIP1):c.1889delC (p.Thr630Asnfs) rs1064793626
NM_032043.2(BRIP1):c.193C>T (p.Gln65Ter) rs575595017
NM_032043.2(BRIP1):c.2010dupT (p.Glu671Terfs) rs775537066
NM_032043.2(BRIP1):c.2038_2039dupTT (p.Leu680Phefs) rs587778134
NM_032043.2(BRIP1):c.2102T>G (p.Leu701Ter) rs876658270
NM_032043.2(BRIP1):c.2108delAinsTCC (p.Lys703Ilefs) rs786203384
NM_032043.2(BRIP1):c.2114_2118delAAGAA (p.Lys705Thrfs) rs864622611
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.2448G>A (p.Trp816Ter) rs1064795352
NM_032043.2(BRIP1):c.2493-1G>A rs786203451
NM_032043.2(BRIP1):c.2684_2687delCCAT (p.Ser895Terfs) rs760551339
NM_032043.2(BRIP1):c.2732dupT (p.Thr912Aspfs) rs752780954
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.290_293delACAA (p.Asn97Metfs) rs763009188
NM_032043.2(BRIP1):c.2974delA (p.Thr992Leufs) rs1064794668
NM_032043.2(BRIP1):c.2990_2993delCAAA (p.Thr997Argfs) rs771028677
NM_032043.2(BRIP1):c.2992_2993delAA (p.Lys998Glufs) rs878855151
NM_032043.2(BRIP1):c.2992_2995delAAGA (p.Lys998Glufs) rs786203717
NM_032043.2(BRIP1):c.420_429delTAAGAAACAGinsAAA (p.Lys142Hisfs) rs1555616185
NM_032043.2(BRIP1):c.440dupA (p.Tyr147Terfs) rs786203521
NM_032043.2(BRIP1):c.463C>T (p.Gln155Ter) rs587781786
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter) rs747604569
NM_032043.2(BRIP1):c.627+1G>A rs587780833
NM_032043.2(BRIP1):c.632dup (p.Gly212Trpfs) rs1060501779
NM_032043.2(BRIP1):c.633delT (p.Gly212Alafs) rs779466229
NM_032043.2(BRIP1):c.890delA (p.Lys297Serfs) rs786202610
NM_032043.2(BRIP1):c.918+1G>A rs587781655

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