List of variants in gene FLCN reported as pathogenic by Eurofins NTD LLC (GA)

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_144997.7(FLCN):c.1433-2A>G	rs398124528	0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)	rs398124529	0.00001
NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter)	rs398124523
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter)	rs398124524
NM_144997.7(FLCN):c.1179del (p.Met394fs)	rs398124525
NM_144997.7(FLCN):c.1203dup (p.Ile402fs)	rs398124526
NM_144997.7(FLCN):c.1285del (p.His429fs)	rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs)	rs80338682
NM_144997.7(FLCN):c.1305del (p.Phe435fs)	rs398124527
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	rs398124530
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter)	rs398124532
NM_144997.7(FLCN):c.250-2A>G	rs398124533
NM_144997.7(FLCN):c.296del (p.Asp99fs)	rs398124534
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs)	rs398124535
NM_144997.7(FLCN):c.346C>T (p.Gln116Ter)	rs398124536
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter)	rs398124538
NM_144997.7(FLCN):c.828_829dup (p.Ala277fs)	rs398124539
NM_144997.7(FLCN):c.83dup (p.Leu29fs)	rs398124540
NM_144997.7(FLCN):c.890_893del (p.Glu297fs)	rs398124541
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)	rs398124542

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