ClinVar Miner

List of variants in gene BRIP1 reported by Department of Molecular Diagnostics, Institute of Oncology Ljubljana

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00002
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.2492+1G>C rs1567755539
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs) rs786203429

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