ClinVar Miner

List of variants reported as pathogenic for Fanconi anemia by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001

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