ClinVar Miner

List of variants reported as benign for Tuberous sclerosis 1 by Illumina Laboratory Services, Illumina

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.*1275T>G rs2809244 0.74384
NM_000368.5(TSC1):c.*3679G>A rs1050700 0.68068
NM_000368.5(TSC1):c.*1322C>T rs2809243 0.54889
NM_000368.5(TSC1):c.*1488C>T rs739442 0.43524
NM_000368.5(TSC1):c.*1372T>G rs58612431 0.26140
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000368.5(TSC1):c.*1934A>G rs10491534 0.14325
NM_000368.5(TSC1):c.*4437G>A rs11553763 0.11942
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.*2651G>T rs55660990 0.04112
NM_000368.5(TSC1):c.*913C>T rs117425923 0.03547
NM_000368.5(TSC1):c.*1487C>T rs79277527 0.02671
NM_000368.5(TSC1):c.*682C>T rs75252898 0.02584
NM_000368.5(TSC1):c.*2558A>G rs115516164 0.02571
NM_000368.5(TSC1):c.*376C>T rs114064768 0.02541
NM_000368.5(TSC1):c.*107T>C rs116917669 0.02353
NM_000368.5(TSC1):c.*1468C>T rs72759433 0.01681
NM_000368.5(TSC1):c.*1785A>G rs74362385 0.01398
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000368.5(TSC1):c.-129A>T rs116951280 0.01206
NM_000368.5(TSC1):c.*2418G>A rs114415181 0.01175
NM_000368.5(TSC1):c.*4057G>A rs17149898 0.01133
NM_000368.5(TSC1):c.*841C>T rs149902841 0.01013
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000368.5(TSC1):c.*2872G>A rs2106345 0.00508
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_000368.5(TSC1):c.*3952A>G rs114454155 0.00436
NM_000368.5(TSC1):c.*2461G>A rs73552806 0.00396
NM_000368.5(TSC1):c.-99C>T rs114755636 0.00347
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000368.5(TSC1):c.*3729G>T rs543396172 0.00309
NM_000368.5(TSC1):c.*1902T>G rs142038787 0.00285
NM_000368.5(TSC1):c.*2708G>C rs150433809 0.00280
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_000368.5(TSC1):c.*2354A>G rs114877981 0.00232
NM_000368.5(TSC1):c.*1127C>T rs139119563 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00187
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_000368.5(TSC1):c.*2733A>G rs73552805 0.00162
NM_000368.5(TSC1):c.*2874G>A rs111832812 0.00158
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000368.5(TSC1):c.*2142T>C rs112314368 0.00135
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00104
NM_000368.5(TSC1):c.*358C>T rs147729052 0.00066
NM_000368.5(TSC1):c.*3448C>T rs201092466 0.00056
NM_000368.5(TSC1):c.*3538A>G rs533324867 0.00041
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000368.5(TSC1):c.*405A>G rs560193480 0.00034
NM_000368.5(TSC1):c.*2628G>C rs189852768 0.00024
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000368.5(TSC1):c.*4788A>C rs576342925 0.00021
NM_000368.5(TSC1):c.*2168C>T rs532469694 0.00006
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000368.5(TSC1):c.*1052G>A rs562950766 0.00002
NM_000368.5(TSC1):c.*4385G>T rs552453527 0.00002
NM_000368.5(TSC1):c.*651C>G rs369911288 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.*1507G>A rs739441
NM_000368.5(TSC1):c.*198T>C rs7037703
NM_000368.5(TSC1):c.*295C>G rs113549339
NM_000368.5(TSC1):c.*4763T>C rs79470094

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