List of variants in gene BRIP1 reported as likely pathogenic by Sema4, Sema4

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: 11

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HGVS	dbSNP	gnomAD frequency
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.193C>T (p.Gln65Ter)	rs575595017	0.00001
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)	rs587782574	0.00001
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)	rs2145242325
NM_032043.3(BRIP1):c.2329del (p.Arg777fs)	rs2144677021
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)	rs2144384208
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)	rs1555616143
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)	rs1567878148

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