List of variants in gene BRIP1 reported as pathogenic by Laboratory for Genotyping Development, RIKEN

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)	rs730881633	0.00001
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)	rs587780226	0.00001
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)	rs747604569	0.00001
NM_032043.3(BRIP1):c.1206del (p.Arg403fs)
NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)
NM_032043.3(BRIP1):c.1774del (p.Trp592fs)	rs2077606796
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)	rs1603328466
NM_032043.3(BRIP1):c.2095A>T (p.Lys699Ter)
NM_032043.3(BRIP1):c.220dup (p.Glu74fs)
NM_032043.3(BRIP1):c.2253_2254del (p.Lys752fs)	rs1555591308
NM_032043.3(BRIP1):c.2300_2303del (p.Glu767fs)
NM_032043.3(BRIP1):c.2493-1G>C	rs786203451
NM_032043.3(BRIP1):c.24T>G (p.Tyr8Ter)	rs752411477
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)	rs1555574803
NM_032043.3(BRIP1):c.2558del (p.Pro853fs)
NM_032043.3(BRIP1):c.2823_2826dup (p.Val943fs)
NM_032043.3(BRIP1):c.2830del (p.Gln944fs)	rs2061353736
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)	rs1342519012
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)	rs779741278
NM_032043.3(BRIP1):c.3307_3308del (p.Asp1102_Ile1103insTer)
NM_032043.3(BRIP1):c.337_343del (p.Thr113fs)
NM_032043.3(BRIP1):c.3592dup (p.Ile1198fs)
NM_032043.3(BRIP1):c.508-1G>A
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)	rs45459799
NM_032043.3(BRIP1):c.985C>T (p.Gln329Ter)	rs2077991700

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