List of variants in gene TSC2 reported as pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.1583dup (p.Asp529fs)	rs2087032456
NM_000548.5(TSC2):c.3099del (p.Arg1032_Tyr1033insTer)	rs137854157
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter)	rs137854210
NM_000548.5(TSC2):c.4473del (p.Val1492fs)	rs397515023
NM_000548.5(TSC2):c.4662+1G>A	rs45514095
NM_000548.5(TSC2):c.501G>A (p.Trp167Ter)	rs755728007
NM_000548.5(TSC2):c.5160+4A>C	rs45517403
NM_000548.5(TSC2):c.848+281C>T	rs45517132

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