ClinVar Miner

List of variants studied for Tuberous sclerosis 1 by Center for Human Genetics, Inc

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Total variants: 17
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NM_000368.4(TSC1):c.1013_1019del (p.Ile338fs) rs1554817344
NM_000368.4(TSC1):c.1029+3A>G rs1554817334
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1697del (p.Pro566fs) rs118203563
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1782_1786del (p.Gly595fs) rs1554815828
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.2716C>T (p.Gln906Ter) rs118203732
NM_000368.4(TSC1):c.509-1G>A rs1554819620
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.769_776del (p.Ile257fs) rs1554817676
NM_000368.4(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.5(TSC1):c.1884_1887AAAG[1] (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.989dup (p.Ser331fs) rs118203478
NM_001162427.2(TSC1):c.210+1527dup rs118203362

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