ClinVar Miner

List of variants in gene FLCN reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 20
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HGVS dbSNP
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.1433-2A>G rs398124528
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529
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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