List of variants in gene TSC1 reported as pathogenic for central nervous system disorder

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)	rs749030456	0.00001
NM_000368.5(TSC1):c.1029+1G>A	rs118203485
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter)	rs118203542
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)	rs118203631
NM_000368.5(TSC1):c.2111_2112del (p.Leu703_Tyr704insTer)	rs118203645
NM_000368.5(TSC1):c.2341C>T (p.Gln781Ter)	rs118203680
NM_000368.5(TSC1):c.2389C>T (p.Gln797Ter)	rs397514862
NM_000368.5(TSC1):c.2776C>T (p.Gln926Ter)	rs397514879
NM_000368.5(TSC1):c.610C>T (p.Arg204Cys)	rs1060505021
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter)	rs118203427

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