ClinVar Miner

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

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.106+2T>C rs1554820976
NM_000368.5(TSC1):c.1138_1141+1del
NM_000368.5(TSC1):c.1141+1G>A rs397514819
NM_000368.5(TSC1):c.1141+3A>G
NM_000368.5(TSC1):c.125T>A (p.Val42Glu) rs1846926218
NM_000368.5(TSC1):c.1264-1G>A rs1554816432
NM_000368.5(TSC1):c.1334-30_1344del
NM_000368.5(TSC1):c.1439-1G>A rs397514804
NM_000368.5(TSC1):c.1439-1G>C rs397514804
NM_000368.5(TSC1):c.1439-2A>G rs118203531
NM_000368.5(TSC1):c.182T>G (p.Leu61Arg) rs118203345
NM_000368.5(TSC1):c.2042-177_2266del
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2391+1G>C rs1060503224
NM_000368.5(TSC1):c.2391+1G>T
NM_000368.5(TSC1):c.2392-1del rs2131710574
NM_000368.5(TSC1):c.2392-6_2398del
NM_000368.5(TSC1):c.2502+1G>A
NM_000368.5(TSC1):c.2502+2_2502+9del rs1588298866
NM_000368.5(TSC1):c.2626-1G>A rs397514847
NM_000368.5(TSC1):c.2626-2A>C rs118203717
NM_000368.5(TSC1):c.2813+2T>G rs1845135533
NM_000368.5(TSC1):c.2814-1G>A
NM_000368.5(TSC1):c.2814-2A>G rs1588290111
NM_000368.5(TSC1):c.362A>T (p.Lys121Met) rs118203369
NM_000368.5(TSC1):c.363+1G>A rs118203372
NM_000368.5(TSC1):c.363+2_363+5del rs1846806279
NM_000368.5(TSC1):c.363+5G>C rs118203374
NM_000368.5(TSC1):c.375CGT[1] (p.Val128del)
NM_000368.5(TSC1):c.378_379insCGT (p.Val126_Val127insArg) rs1846682853
NM_000368.5(TSC1):c.381_383del (p.Val128del) rs118203378
NM_000368.5(TSC1):c.509-1G>C rs1554819620
NM_000368.5(TSC1):c.572T>A (p.Leu191His) rs118203403
NM_000368.5(TSC1):c.663+1G>A rs118203419
NM_000368.5(TSC1):c.663+2T>C
NM_000368.5(TSC1):c.664-1G>A rs118203423
NM_000368.5(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.5(TSC1):c.738-2_740del rs1554817707

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