ClinVar Miner

List of variants in gene TSC1 studied for Lymphangiomyomatosis; Tuberous sclerosis 1; Focal cortical dysplasia type II

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Total variants: 8
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HGVS dbSNP
NM_000368.4(TSC1):c.1033del (p.Thr345fs) rs1564488264
NM_000368.4(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2303G>A (p.Arg768His) rs1033725987
NM_000368.4(TSC1):c.518C>T (p.Ala173Val) rs777484049
NM_000368.4(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.4(TSC1):c.941C>T (p.Thr314Met) rs373454700

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