ClinVar Miner

List of variants reported as pathogenic for Familial cancer of breast by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.67+1G>A rs81002796
NM_000059.4(BRCA2):c.9317G>A (p.Trp3106Ter) rs80359205
NM_007294.4(BRCA1):c.5417del (p.Pro1806fs) rs80357558
NM_024675.4(PALB2):c.2032del (p.Leu678fs) rs730881866
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339

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