List of variants in gene BRIP1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)	rs730881645	0.00006
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)	rs775171520	0.00002
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)	rs368796923	0.00001
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)	rs575595017	0.00001
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)	rs587782410	0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)	rs747604569	0.00001
NC_000017.10:g.(59934593_59937230)_(59938931_59940644)del
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)	rs1555607749
NM_032043.3(BRIP1):c.1340+1G>A	rs1555607022
NM_032043.3(BRIP1):c.141del (p.Thr48fs)	rs587782065
NM_032043.3(BRIP1):c.1473+1G>T	rs748274524
NM_032043.3(BRIP1):c.1474-1G>A	rs1555603638
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)	rs1603328466
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)	rs864622611
NM_032043.3(BRIP1):c.2379+1G>T	rs1555590286
NM_032043.3(BRIP1):c.241del (p.Glu81fs)	rs1292988272
NM_032043.3(BRIP1):c.2487del (p.Gly830fs)
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)	rs878855151
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)	rs1342519012
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)	rs748598593
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)	rs1603275367
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)	rs779741278
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)	rs1426528935
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)	rs778664039
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)	rs786203521
NM_032043.3(BRIP1):c.646del (p.Arg216fs)	rs1603347042
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)	rs1603346983
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)	rs45459799
NM_032043.3(BRIP1):c.875del (p.Phe292fs)	rs2078107930

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