List of variants in gene FLCN reported as pathogenic for Potocki-Lupski syndrome

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_144997.7(FLCN):c.1062+2T>G	rs886039370
NM_144997.7(FLCN):c.1285del (p.His429fs)	rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs)	rs80338682
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	rs879255678
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	rs398124530
NM_144997.7(FLCN):c.250-2A>G	rs398124533
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del)	rs786203218
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)	rs587782069
NM_144997.7(FLCN):c.49dup (p.Arg17fs)	rs758385503

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