List of variants in gene BRIP1 reported as pathogenic for Malignant tumor of breast

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	rs28903098	0.00024
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.1781T>G (p.Leu594Ter)
NM_032043.3(BRIP1):c.2258-1G>A	rs1064793887
NM_032043.3(BRIP1):c.2492_2492+5del	rs1603293306
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)	rs760551339
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)	rs774684620

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