List of variants in gene FLCN reported as uncertain significance by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)	rs78683075	0.00024
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp)	rs138070947	0.00017
NM_144997.7(FLCN):c.716G>A (p.Arg239His)	rs753948488	0.00004
NM_144997.7(FLCN):c.176G>A (p.Arg59His)	rs374969279	0.00001
NM_144997.7(FLCN):c.445G>A (p.Gly149Ser)	rs752014050	0.00001
NM_144997.7(FLCN):c.764A>C (p.His255Pro)	rs879255665	0.00001
NM_144997.7(FLCN):c.1067T>C (p.Leu356Pro)	rs879255671
NM_144997.7(FLCN):c.1177-5_1177-3del	rs767671406
NM_144997.7(FLCN):c.1253T>C (p.Leu418Pro)	rs879255674
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter)	rs879255684
NM_144997.7(FLCN):c.31T>A (p.Cys11Ser)	rs879255659
NM_144997.7(FLCN):c.763C>T (p.His255Tyr)	rs879255664

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