ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 1 by Invitae

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Total variants: 15
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NM_000368.4(TSC1):c.106+2T>C rs1554820976
NM_000368.4(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.4(TSC1):c.211-1G>T rs118203353
NM_000368.4(TSC1):c.2391+1G>C rs1060503224
NM_000368.4(TSC1):c.2626-2A>C rs118203717
NM_000368.4(TSC1):c.2626-2A>G rs118203717
NM_000368.4(TSC1):c.363+1G>A rs118203372
NM_000368.4(TSC1):c.663+1G>A rs118203419
NM_000368.4(TSC1):c.664-1G>A rs118203423
NM_000368.4(TSC1):c.737+2T>C rs1564497308
NM_000368.4(TSC1):c.738-1G>A rs1564490210
NM_000368.4(TSC1):c.738-2A>T rs118203440
NM_000368.4(TSC1):c.738-2_740del rs1554817707

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