ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.*2904G>T rs559978998 0.00163
NM_000368.5(TSC1):c.*3830C>T rs544931538 0.00120
NM_000368.5(TSC1):c.*677G>C rs189890583 0.00069
NM_000368.5(TSC1):c.*279T>G rs554637460 0.00061
NM_000368.5(TSC1):c.*1861G>A rs561511694 0.00060
NM_000368.5(TSC1):c.*3997G>A rs148982924 0.00060
NM_000368.5(TSC1):c.*4680G>T rs747969932 0.00055
NM_000368.5(TSC1):c.*3565C>T rs771494783 0.00048
NM_000368.5(TSC1):c.*116A>G rs181486656 0.00038
NM_000368.5(TSC1):c.*3045A>G rs746365344 0.00035
NM_000368.5(TSC1):c.*4447C>T rs112968492 0.00034
NM_000368.5(TSC1):c.*2854T>C rs899761882 0.00029
NM_000368.5(TSC1):c.*1474G>A rs1013551475 0.00019
NM_000368.5(TSC1):c.*2094G>A rs534649062 0.00019
NM_000368.5(TSC1):c.*1251C>T rs773490178 0.00016
NM_000368.5(TSC1):c.*3034T>C rs764220703 0.00015
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00014
NM_000368.5(TSC1):c.*1452A>C rs969974293 0.00011
NM_000368.5(TSC1):c.*499C>T rs530003850 0.00011
NM_000368.5(TSC1):c.*60T>G rs577329896 0.00011
NM_000368.5(TSC1):c.*4248C>T rs886063567 0.00010
NM_000368.5(TSC1):c.1438+6G>A rs118203530 0.00009
NM_000368.5(TSC1):c.*4492T>C rs889436708 0.00007
NM_000368.5(TSC1):c.2209-9C>G rs118203660 0.00007
NM_000368.5(TSC1):c.*2724C>T rs749535135 0.00006
NM_000368.5(TSC1):c.*4254G>A rs139801034 0.00006
NM_000368.5(TSC1):c.*806T>C rs191614777 0.00006
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00006
NM_000368.5(TSC1):c.3123C>G (p.Ser1041Arg) rs753374839 0.00006
NM_000368.5(TSC1):c.*824C>T rs886063613 0.00005
NM_000368.5(TSC1):c.*1972A>C rs917117694 0.00004
NM_000368.5(TSC1):c.*2638C>T rs373845353 0.00004
NM_000368.5(TSC1):c.*4515G>A rs886063565 0.00004
NM_000368.5(TSC1):c.*4538A>G rs1036825417 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000368.5(TSC1):c.*1000A>G rs886063610 0.00003
NM_000368.5(TSC1):c.*1680G>A rs532372427 0.00003
NM_000368.5(TSC1):c.*2949A>T rs886063588 0.00003
NM_000368.5(TSC1):c.*4845G>T rs886063562 0.00003
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562 0.00003
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys) rs200398750 0.00003
NM_000368.5(TSC1):c.3005A>T (p.Asp1002Val) rs202121327 0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000368.5(TSC1):c.*2515T>C rs886878529 0.00002
NM_000368.5(TSC1):c.*2637C>G rs538802838 0.00002
NM_000368.5(TSC1):c.*2647C>T rs886063595 0.00002
NM_000368.5(TSC1):c.*3272A>G rs866920023 0.00002
NM_000368.5(TSC1):c.*448G>A rs886063617 0.00002
NM_000368.5(TSC1):c.*4522C>T rs918338551 0.00002
NM_000368.5(TSC1):c.*941A>G rs189368676 0.00002
NM_000368.5(TSC1):c.-214C>T rs886063628 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000368.4(TSC1):c.-227G>A rs886063629 0.00001
NM_000368.5(TSC1):c.*1215G>A rs1013608610 0.00001
NM_000368.5(TSC1):c.*1349G>A rs1195760994 0.00001
NM_000368.5(TSC1):c.*1519del rs886063607 0.00001
NM_000368.5(TSC1):c.*1970G>A rs886063603 0.00001
NM_000368.5(TSC1):c.*2104A>G rs1019153783 0.00001
NM_000368.5(TSC1):c.*2446A>G rs558966777 0.00001
NM_000368.5(TSC1):c.*249G>A rs1296777494 0.00001
NM_000368.5(TSC1):c.*250G>C rs1309725348 0.00001
NM_000368.5(TSC1):c.*2576T>C rs886063599 0.00001
NM_000368.5(TSC1):c.*2829A>G rs886063591 0.00001
NM_000368.5(TSC1):c.*2890A>G rs946784136 0.00001
NM_000368.5(TSC1):c.*333C>A rs886063618 0.00001
NM_000368.5(TSC1):c.*3484A>G rs1335423130 0.00001
NM_000368.5(TSC1):c.*3959T>C rs1445439695 0.00001
NM_000368.5(TSC1):c.*4128G>A rs886063572 0.00001
NM_000368.5(TSC1):c.1589G>C (p.Ser530Thr) rs368481360 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.2556G>C (p.Leu852=) rs770381040 0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) rs923543734 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.738-10C>A rs768158324 0.00001
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) rs148756522 0.00001
NM_000368.5(TSC1):c.*1036C>G rs1844969383
NM_000368.5(TSC1):c.*1050T>C rs530042727
NM_000368.5(TSC1):c.*106A>G rs886063620
NM_000368.5(TSC1):c.*1089G>A rs886063609
NM_000368.5(TSC1):c.*1239C>T rs1350222885
NM_000368.5(TSC1):c.*1355C>A rs749683153
NM_000368.5(TSC1):c.*1519C>T rs886063608
NM_000368.5(TSC1):c.*1541dup rs748099884
NM_000368.5(TSC1):c.*1612C>A rs886063605
NM_000368.5(TSC1):c.*1839G>A rs1170523556
NM_000368.5(TSC1):c.*1969T>C rs886063604
NM_000368.5(TSC1):c.*2022G>T rs568052856
NM_000368.5(TSC1):c.*2213C>A rs539030496
NM_000368.5(TSC1):c.*2364T>A rs886063602
NM_000368.5(TSC1):c.*2439C>A rs886063601
NM_000368.5(TSC1):c.*2475C>A rs886063600
NM_000368.5(TSC1):c.*2558A>C rs115516164
NM_000368.5(TSC1):c.*2615C>A rs886063598
NM_000368.5(TSC1):c.*2632A>G rs886063597
NM_000368.5(TSC1):c.*2644G>T rs886063596
NM_000368.5(TSC1):c.*2658G>T rs886063594
NM_000368.5(TSC1):c.*2679T>C rs886063593
NM_000368.5(TSC1):c.*2691A>T rs886063592
NM_000368.5(TSC1):c.*2893dup rs143549363
NM_000368.5(TSC1):c.*2897A>G rs886063589
NM_000368.5(TSC1):c.*289T>A rs115091888
NM_000368.5(TSC1):c.*2924T>C rs1844864883
NM_000368.5(TSC1):c.*295C>A rs113549339
NM_000368.5(TSC1):c.*298A>G rs886063619
NM_000368.5(TSC1):c.*3047C>A rs886063587
NM_000368.5(TSC1):c.*3063A>T rs886063586
NM_000368.5(TSC1):c.*3092T>C rs1844856793
NM_000368.5(TSC1):c.*3170G>A rs367605870
NM_000368.5(TSC1):c.*3238T>C rs886063585
NM_000368.5(TSC1):c.*3239G>T rs886063584
NM_000368.5(TSC1):c.*3240G>T rs886063583
NM_000368.5(TSC1):c.*3248_*3250del rs886063582
NM_000368.5(TSC1):c.*3284C>A rs886063581
NM_000368.5(TSC1):c.*3285G>T rs886063580
NM_000368.5(TSC1):c.*3330G>T rs553475307
NM_000368.5(TSC1):c.*350G>A rs1845006725
NM_000368.5(TSC1):c.*3531G>T rs886063579
NM_000368.5(TSC1):c.*3543C>A rs886063578
NM_000368.5(TSC1):c.*3648C>T rs113313202
NM_000368.5(TSC1):c.*3658G>A rs886063577
NM_000368.5(TSC1):c.*3685G>A rs1844826893
NM_000368.5(TSC1):c.*3737C>A rs886063576
NM_000368.5(TSC1):c.*3836G>A rs572231078
NM_000368.5(TSC1):c.*3924G>T rs886063575
NM_000368.5(TSC1):c.*3987A>G rs886063574
NM_000368.5(TSC1):c.*4072G>A rs886063573
NM_000368.5(TSC1):c.*4105C>T rs1588276922
NM_000368.5(TSC1):c.*4119T>C rs1844802090
NM_000368.5(TSC1):c.*4159G>T rs886063571
NM_000368.5(TSC1):c.*4167C>A rs886063570
NM_000368.5(TSC1):c.*4193A>C rs886063569
NM_000368.5(TSC1):c.*4233G>T rs886063568
NM_000368.5(TSC1):c.*4248C>A rs886063567
NM_000368.5(TSC1):c.*4356C>T rs886063566
NM_000368.5(TSC1):c.*4622G>A rs886063564
NM_000368.5(TSC1):c.*4631dup rs60000611
NM_000368.5(TSC1):c.*4826A>C rs886063563
NM_000368.5(TSC1):c.*548C>A rs886063616
NM_000368.5(TSC1):c.*583C>A rs886063615
NM_000368.5(TSC1):c.*817G>T rs886063614
NM_000368.5(TSC1):c.*859G>T rs886063612
NM_000368.5(TSC1):c.*920C>A rs886063611
NM_000368.5(TSC1):c.*936T>C rs1170508811
NM_000368.5(TSC1):c.-166A>G rs886063626
NM_000368.5(TSC1):c.-174A>T rs886063627
NM_000368.5(TSC1):c.-80-10T>C rs886063625
NM_000368.5(TSC1):c.108C>T (p.Asp36=) rs886063624
NM_000368.5(TSC1):c.1177A>T (p.Thr393Ser) rs1845904791
NM_000368.5(TSC1):c.1734C>T (p.Thr578=) rs1251871091
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.5(TSC1):c.1759A>G (p.Lys587Glu) rs397514846
NM_000368.5(TSC1):c.1997+6G>A rs553762962
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.5(TSC1):c.261A>G (p.Leu87=) rs1407780510
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-3_2626-2insTA rs760737807
NM_000368.5(TSC1):c.2626-3del rs886063622
NM_000368.5(TSC1):c.2626-4_2626-3dup rs1554813638
NM_000368.5(TSC1):c.2946A>G (p.Lys982=) rs1845117521
NM_000368.5(TSC1):c.3252A>C (p.Ser1084=) rs886063621
NM_000368.5(TSC1):c.469A>G (p.Ile157Val) rs1846673273
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400

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