List of variants in gene TSC1 reported by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000368.5(TSC1):c.965T>C (p.Met322Thr)	rs1073123	0.15387
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)	rs118203657	0.00343
NM_000368.5(TSC1):c.1263+88A>G	rs118203507	0.00250
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser)	rs118203742	0.00139
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn)	rs118203493	0.00033
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)	rs75820036	0.00029
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys)	rs118203532	0.00019
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu)	rs118203481	0.00012
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln)	rs199755731	0.00011
NM_000368.5(TSC1):c.851G>A (p.Arg284His)	rs151309813	0.00008
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)	rs118203553	0.00006
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser)	rs76801599	0.00005
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)	rs201867031	0.00003
NM_000368.5(TSC1):c.2066G>A (p.Arg689His)	rs200827913	0.00001
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile)	rs118203334
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup)	rs2234980

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