ClinVar Miner

List of variants reported for Breast cancer, early-onset by Genetic Services Laboratory, University of Chicago

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00023
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00016
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495 0.00001
NM_032043.3(BRIP1):c.1141-9A>G rs1555607258
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151

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