ClinVar Miner

List of variants studied for Birt-Hogg-Dube syndrome 1 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.502C>T (p.Arg168Cys) rs587778367 0.00001
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.183C>A (p.His61Gln)
NM_144997.7(FLCN):c.451G>T (p.Val151Leu) rs147164515

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