List of variants in gene TSC1 reported as likely pathogenic by GeneDx

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_000368.5(TSC1):c.1326_1327del (p.Gly443fs)	rs1064795285
NM_000368.5(TSC1):c.2338A>T (p.Arg780Ter)	rs1564477162
NM_000368.5(TSC1):c.2699_2700insAA (p.Leu902fs)	rs2131635932
NM_000368.5(TSC1):c.569G>C (p.Arg190Pro)	rs118203402
NM_000368.5(TSC1):c.572T>C (p.Leu191Pro)	rs118203403
NM_000368.5(TSC1):c.664-15A>G	rs118203422
NM_000368.5(TSC1):c.737G>A (p.Arg246Lys)	rs118203436
NM_000368.5(TSC1):c.913G>A (p.Gly305Arg)	rs118203468

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