ClinVar Miner

List of variants in gene TSC1 reported as likely pathogenic for Tuberous sclerosis syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1698_1704delinsGC (p.Ala567fs) rs1554815914
NM_000368.5(TSC1):c.1998-2A>G rs1057518217
NM_000368.5(TSC1):c.2208+2T>A rs1064794132
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter) rs1588290078
NM_000368.5(TSC1):c.737G>T (p.Arg246Met)

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