List of variants in gene BRIP1 reported as likely pathogenic by Mendelics

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)	rs764803896	0.00001
NM_032043.3(BRIP1):c.2906-1G>A	rs773639563	0.00001
NM_032043.3(BRIP1):c.1340+1G>A	rs1555607022
NM_032043.3(BRIP1):c.1936-2A>C	rs878855143
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)	rs786202760
NM_032043.3(BRIP1):c.205+1del	rs1057517648
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)	rs771654971
NM_032043.3(BRIP1):c.720del (p.Lys240fs)	rs1567838246

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