List of variants in gene TSC2 studied for Autism spectrum disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)	rs45474795	0.00306
NM_000548.5(TSC2):c.454C>G (p.His152Asp)	rs397515285	0.00003
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met)	rs397515209	0.00002
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)	rs796053483	0.00001
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg)	rs397515191	0.00001
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr)	rs201206500	0.00001
NM_000548.5(TSC2):c.1597A>C (p.Lys533Gln)	rs397515038
NM_000548.5(TSC2):c.183A>G (p.Ile61Met)	rs2084961841
NM_000548.5(TSC2):c.190A>G (p.Ile64Val)	rs397515081
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe)	rs397514908
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser)	rs397515077
NM_000548.5(TSC2):c.2879C>T (p.Ser960Phe)	rs397514898
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln)	rs397515156
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr)	rs397515110

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