ClinVar Miner

List of variants studied for Familial cancer of breast; Fanconi anemia complementation group J by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
NM_032043.3(BRIP1):c.2429_2432dup (p.Pro812fs)

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