ClinVar Miner

List of variants studied for Birt-Hogg-Dube syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.490del (p.Arg164fs) rs1414696397 0.00001
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682

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