List of variants in gene BRIP1 reported as 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.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)	rs587781321	0.00006
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)	rs587780228	0.00003
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)	rs587782410	0.00001
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)	rs1028347439
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)	rs1064794202
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)	rs775735278
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)	rs730881649
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)	rs574552037
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	rs760551339
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)	rs786203717

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