ClinVar Miner

List of variants reported for Breast-ovarian cancer, familial, susceptibility to, 2 by Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_000059.4(BRCA2):c.1555A>G (p.Ser519Gly) rs1555281950
NM_000059.4(BRCA2):c.2197_2198insAAAAGAAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTANNNNNNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA (p.Val733delinsGluLysLysArgAlaGlyArgGlyGlySerArgLeuTer) rs2072452320
NM_000059.4(BRCA2):c.4060dup (p.Thr1354fs) rs2072495166
NM_000059.4(BRCA2):c.526A>T (p.Thr176Ser) rs1214427273
NM_007294.4(BRCA1):c.3027A>C (p.Ser1009=) rs1555588512
NM_007294.4(BRCA1):c.4405C>A (p.Pro1469Thr) rs80356960

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