List of variants in gene TSC2 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1057_1059delinsTTT (p.Leu353Phe)
NM_000548.5(TSC2):c.3134C>T (p.Ser1045Phe)
NM_000548.5(TSC2):c.3611-2A>T	rs397515169
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu)	rs45462194
NM_000548.5(TSC2):c.4603G>C (p.Asp1535His)	rs45517353
NM_000548.5(TSC2):c.4634T>C (p.Ile1545Thr)
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro)	rs45517398
NM_000548.5(TSC2):c.5231T>C (p.Leu1744Pro)	rs45517413
NM_000548.5(TSC2):c.839T>C (p.Met280Thr)
NM_000548.5(TSC2):c.976-10C>A	rs765990217

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