ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.5(TSC1):c.276dup (p.Leu93fs) rs118203362
NM_000368.5(TSC1):c.989dup (p.Ser331fs) rs118203478

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