List of variants in gene TSC1 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter)	rs118203537
NM_000368.5(TSC1):c.1868_1877del (p.Lys623fs)	rs1845615656
NM_000368.5(TSC1):c.2321_2330del (p.Lys774fs)	rs1845446236
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)	rs118203682
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)	rs118203707
NM_000368.5(TSC1):c.989dup (p.Ser331fs)	rs118203478

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