List of variants in gene TSC1 reported by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)	rs118203576	0.01347
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)	rs118203657	0.00343
NM_000368.5(TSC1):c.64C>T (p.Arg22Trp)	rs749030456	0.00001
NM_000368.5(TSC1):c.1680_1702del (p.Ser561fs)	rs118203557
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs)	rs118203597
NM_000368.5(TSC1):c.495C>A (p.Cys165Ter)	rs118203388
NM_000368.5(TSC1):c.539T>C (p.Leu180Pro)	rs118203396
NM_000368.5(TSC1):c.610C>T (p.Arg204Cys)	rs1060505021
NM_000368.5(TSC1):c.671T>G (p.Met224Arg)	rs118203426
NM_000368.5(TSC1):c.749T>A (p.Leu250Ter)	rs118203447

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