ClinVar Miner

List of variants in gene BRIP1 reported as pathogenic by GeneKor MSA

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Total variants: 3
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HGVS dbSNP
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.298del (p.Asp99_Met100insTer) rs1567874779
NM_032043.2(BRIP1):c.747del (p.Thr250fs) rs1567838174

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