List of variants in gene TSC1 reported as likely pathogenic by Athena Diagnostics Inc

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.1125dup (p.Val376fs)	rs1554817227
NM_000368.5(TSC1):c.1569_1570delinsGTGAA (p.Ser524Ter)	rs2131841336
NM_000368.5(TSC1):c.211-7T>G	rs1554820321
NM_000368.5(TSC1):c.456del (p.Asp153fs)	rs1554819896
NM_000368.5(TSC1):c.473T>C (p.Phe158Ser)	rs118203385

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