ClinVar Miner

List of variants reported as pathogenic by Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.516+2T>C rs397507764
NM_000059.4(BRCA2):c.7617+1del rs1593919989
NM_000059.4(BRCA2):c.7976+5G>T rs786201180
NM_000059.4(BRCA2):c.8332-13T>G rs1593930050
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8954-2A>T rs1135401928
NM_007294.4(BRCA1):c.302-1G>A rs80358116

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