ClinVar Miner

List of variants reported as pathogenic for Tuberous sclerosis 1 by Center for Human Genetics, Inc

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Total variants: 7
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HGVS dbSNP
NM_000368.4(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.4(TSC1):c.1884_1887AAAG[1] (p.Lys630fs)
NM_000368.4(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478
NM_001162427.2(TSC1):c.210+1527dup rs118203362

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