List of variants in gene TSC1 reported as pathogenic for Tuberous sclerosis syndrome

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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_000368.5(TSC1):c.1101_1114del (p.Asp368fs)	rs118203495
NM_000368.5(TSC1):c.1257del (p.Arg420fs)	rs118203506
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)	rs118203597
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	rs118203631
NM_000368.5(TSC1):c.2446A>T (p.Lys816Ter)	rs1588299158
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter)	rs118203434
NM_000368.5(TSC1):c.792_793dup (p.Asp265fs)
NM_000368.5(TSC1):c.959_965del (p.Leu320fs)	rs1588324615

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