List of variants in gene BRIP1 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)	rs730881645	0.00006
NM_032043.3(BRIP1):c.918+1G>A	rs587781655	0.00006
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)	rs149364097	0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)	rs752309409	0.00004
NM_032043.3(BRIP1):c.2492+2dup	rs587780240	0.00003
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)	rs730881635
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)	rs1064795649
NM_032043.3(BRIP1):c.1312del (p.Leu438fs)	rs1064795413
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)	rs1555605955
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)	rs768736851
NM_032043.3(BRIP1):c.1628+5G>A	rs754929230
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)	rs1057519365
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)	rs753023295
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp)	rs1567812484
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)	rs1603367649
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)	rs760782298
NM_032043.3(BRIP1):c.1_2del (p.Met1fs)	rs876661246
NM_032043.3(BRIP1):c.2097+1G>C	rs786202941
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)	rs1555591385
NM_032043.3(BRIP1):c.2330del (p.Arg777fs)	rs1064794689
NM_032043.3(BRIP1):c.2379+1G>T	rs1555590286
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)	rs2144384208
NM_032043.3(BRIP1):c.243del (p.Val82fs)	rs1064794890
NM_032043.3(BRIP1):c.2576-1G>T	rs587782539
NM_032043.3(BRIP1):c.307G>T (p.Gly103Ter)	rs777068696
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)	rs748598593
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	rs778664039
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)	rs756853672
NM_032043.3(BRIP1):c.379+1G>T	rs1437158047
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)	rs876660937
NM_032043.3(BRIP1):c.566C>G (p.Ser189Ter)	rs1555615763
NM_032043.3(BRIP1):c.627+1G>T	rs587780833
NM_032043.3(BRIP1):c.917dup (p.Asn306fs)	rs1555609121
NM_032043.3(BRIP1):c.93+1G>T	rs587782047
NM_032043.3(BRIP1):c.93+4_93+7del	rs1224034842

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