ClinVar Miner

List of variants in gene TSC1 studied for Lymphangiomyomatosis; Tuberous sclerosis syndrome

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Total variants: 5
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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.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.3195G>A (p.Thr1065=) rs118203746 0.00002
NM_000368.5(TSC1):c.491G>A (p.Trp164Ter) rs118203387
NM_000368.5(TSC1):c.891T>G (p.Tyr297Ter) rs118203461

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