ClinVar Miner

List of variants in gene BRCA1 reported by Hereditary Cancer Genetics group, Vall d'Hebron Institute of Oncology

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.135-18T>G rs80358085 0.00001
NM_007294.4(BRCA1):c.4185+4105C>T rs1597853155 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr) rs80357061 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.212+17T>C rs369461674
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.4484+5G>C rs886040910
NM_007294.4(BRCA1):c.4675+1G>C rs80358044
NM_007294.4(BRCA1):c.5153G>T (p.Trp1718Leu) rs41293461
NM_007294.4(BRCA1):c.5333-3T>G rs397509265
NM_007294.4(BRCA1):c.5468-1_5468delinsTT rs1597797251
NM_007294.4(BRCA1):c.81-11T>C rs767144634

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