ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 1

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Total variants: 16
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HGVS dbSNP
NM_000368.4(TSC1):c.1009_1015delCTGATAA (p.Ile338Asnfs) rs1554817344
NM_000368.4(TSC1):c.1029+3A>G rs1554817334
NM_000368.4(TSC1):c.106+2T>C rs1554820976
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1782_1786delGGGCT (p.Gly595Trpfs) rs1554815828
NM_000368.4(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.4(TSC1):c.2391+1G>C rs1060503224
NM_000368.4(TSC1):c.2626-2A>C
NM_000368.4(TSC1):c.509-1G>A rs1554819620
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000368.4(TSC1):c.737+2T>C
NM_000368.4(TSC1):c.738-1G>A
NM_000368.4(TSC1):c.738-2_740delAGGTG rs1554817707
NM_000368.4(TSC1):c.769_776delATCGAGTG (p.Ile257Cysfs) rs1554817676
NM_000368.4(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_001162426.1(TSC1):c.2266G>T (p.Glu756Ter) rs1057519319

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