ClinVar Miner

List of variants in gene FLCN reported as likely pathogenic by Division of Genomic Diagnostics,The Children's Hospital of Philadelphia

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Total variants: 4
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HGVS dbSNP
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529
NM_144997.7(FLCN):c.1525_1527GAG[1] (p.Glu510del) rs879255681
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683
NM_144997.7(FLCN):c.466_468TTC[1] (p.Phe157del) rs786203218

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