ClinVar Miner

List of variants reported as likely pathogenic for Familial cancer of breast; Fanconi anemia complementation group J by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs) rs1483527885 0.00001
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs) rs878855134
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs) rs864622611
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) rs878855151
NM_032043.3(BRIP1):c.3116del (p.Glu1039fs)
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs) rs778664039
NM_032043.3(BRIP1):c.462dup (p.Gln155fs) rs1567868477
NM_032043.3(BRIP1):c.508-1G>T rs864622277
NM_032043.3(BRIP1):c.508-2A>C rs876659707
NM_032043.3(BRIP1):c.903del (p.Leu301fs) rs876659490
NM_032043.3(BRIP1):c.93+1G>T rs587782047
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842

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