ClinVar Miner

List of variants reported as uncertain significance for Tuberous sclerosis syndrome

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ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.2296G>A (p.Val766Met) rs150672640 0.00041
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000548.5(TSC2):c.1443+4C>T rs45517172 0.00024
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223 0.00022
NM_000548.5(TSC2):c.167A>G (p.Asn56Ser) rs144165984 0.00021
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_000548.5(TSC2):c.3429C>T (p.Asp1143=) rs45487691 0.00019
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695 0.00019
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391 0.00017
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000548.5(TSC2):c.3276G>A (p.Pro1092=) rs368923127 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.223G>A (p.Glu75Lys) rs145470784 0.00013
NM_000548.5(TSC2):c.5200G>A (p.Asp1734Asn) rs751990617 0.00013
NM_000548.5(TSC2):c.1599+10G>A rs376692777 0.00012
NM_000368.5(TSC1):c.*4248C>T rs886063567 0.00010
NM_000548.5(TSC2):c.4887C>T (p.Asp1629=) rs137854152 0.00009
NM_000548.5(TSC2):c.2009C>T (p.Pro670Leu) rs397515288 0.00008
NM_000548.5(TSC2):c.4569+12C>T rs45517350 0.00008
NM_000548.5(TSC2):c.*7G>A rs765016970 0.00007
NM_000548.5(TSC2):c.1040A>G (p.Lys347Arg) rs367963898 0.00007
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515 0.00007
NM_000548.5(TSC2):c.*77G>A rs886051799 0.00006
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp) rs777489742 0.00006
NM_000548.5(TSC2):c.1293G>A (p.Ala431=) rs45517162 0.00005
NM_000548.5(TSC2):c.4849+12C>T rs45517373 0.00005
NM_000548.5(TSC2):c.4863C>T (p.Ile1621=) rs142085017 0.00005
NM_000548.5(TSC2):c.-34G>A rs559641280 0.00004
NM_000548.5(TSC2):c.-82G>T rs1391750751 0.00004
NM_000548.5(TSC2):c.1095C>T (p.Ile365=) rs757135168 0.00004
NM_000548.5(TSC2):c.1574A>G (p.Asn525Ser) rs45457694 0.00004
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000548.5(TSC2):c.2539C>T (p.Leu847=) rs377300009 0.00004
NM_000548.5(TSC2):c.2639+10C>T rs137854378 0.00004
NM_000548.5(TSC2):c.3567G>A (p.Leu1189=) rs146734084 0.00004
NM_000548.5(TSC2):c.5010C>T (p.His1670=) rs376306544 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000368.5(TSC1):c.*2949A>T rs886063588 0.00003
NM_000368.5(TSC1):c.*4845G>T rs886063562 0.00003
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148 0.00003
NM_000548.5(TSC2):c.1133C>T (p.Pro378Leu) rs45517154 0.00003
NM_000548.5(TSC2):c.1600G>T (p.Val534Leu) rs587778729 0.00003
NM_000548.5(TSC2):c.2153G>C (p.Arg718Pro) rs45517215 0.00003
NM_000548.5(TSC2):c.3210G>A (p.Thr1070=) rs539927192 0.00003
NM_000548.5(TSC2):c.3492G>A (p.Ala1164=) rs769562717 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000548.5(TSC2):c.775-5C>T rs181827303 0.00003
NM_000548.5(TSC2):c.1257+8C>A rs767392684 0.00002
NM_000548.5(TSC2):c.1743C>A (p.Ser581Arg) rs775195398 0.00002
NM_000548.5(TSC2):c.1842C>G (p.Ala614=) rs201575136 0.00002
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) rs1319342312 0.00002
NM_000548.5(TSC2):c.2074G>A (p.Val692Ile) rs201769220 0.00002
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736 0.00002
NM_000548.5(TSC2):c.2358C>T (p.Arg786=) rs372834284 0.00002
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) rs767059758 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.4097A>C (p.Glu1366Ala) rs755461310 0.00002
NM_000548.5(TSC2):c.4218C>T (p.Asp1406=) rs886051794 0.00002
NM_000548.5(TSC2):c.4590G>A (p.Ser1530=) rs377377367 0.00002
NM_000548.5(TSC2):c.4671C>T (p.Ser1557=) rs151140709 0.00002
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795 0.00002
NM_000548.5(TSC2):c.736A>G (p.Thr246Ala) rs137854123 0.00002
NM_000368.4(TSC1):c.-227G>A rs886063629 0.00001
NM_000368.5(TSC1):c.*1519del rs886063607 0.00001
NM_000368.5(TSC1):c.*333C>A rs886063618 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.64C>T (p.Arg22Trp) rs749030456 0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419 0.00001
NM_000548.5(TSC2):c.1361+13C>T rs900870796 0.00001
NM_000548.5(TSC2):c.1362-9G>A rs763842281 0.00001
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg) rs752953762 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_000548.5(TSC2):c.1689C>T (p.Ala563=) rs779858018 0.00001
NM_000548.5(TSC2):c.1836G>A (p.Leu612=) rs758839898 0.00001
NM_000548.5(TSC2):c.2077C>T (p.Leu693=) rs1167258871 0.00001
NM_000548.5(TSC2):c.226-4A>G rs886051786 0.00001
NM_000548.5(TSC2):c.2312C>T (p.Thr771Ile) rs886051790 0.00001
NM_000548.5(TSC2):c.2355+8G>A rs199558375 0.00001
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134 0.00001
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492 0.00001
NM_000548.5(TSC2):c.2546-4G>A rs746958032 0.00001
NM_000548.5(TSC2):c.2838-6C>T rs528706539 0.00001
NM_000548.5(TSC2):c.3294C>T (p.Pro1098=) rs150126331 0.00001
NM_000548.5(TSC2):c.3397+15C>T rs202246408 0.00001
NM_000548.5(TSC2):c.3777C>T (p.Ser1259=) rs786202178 0.00001
NM_000548.5(TSC2):c.4072C>G (p.Pro1358Ala) rs878854104 0.00001
NM_000548.5(TSC2):c.4137G>A (p.Ser1379=) rs769653533 0.00001
NM_000548.5(TSC2):c.4275G>A (p.Gly1425=) rs1057522238 0.00001
NM_000548.5(TSC2):c.4286C>T (p.Ala1429Val) rs757579310 0.00001
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796 0.00001
NM_000548.5(TSC2):c.521C>T (p.Ser174Leu) rs747538587 0.00001
NM_000548.5(TSC2):c.5259+15G>A rs373209496 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000548.5(TSC2):c.695C>T (p.Pro232Leu) rs760100924 0.00001
NM_000548.5(TSC2):c.739A>G (p.Ile247Val) rs774526017 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000548.5(TSC2):c.879A>G (p.Arg293=) rs369222477 0.00001
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.*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.*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.*3047C>A rs886063587
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.*3531G>T rs886063579
NM_000368.5(TSC1):c.*3543C>A rs886063578
NM_000368.5(TSC1):c.*3658G>A rs886063577
NM_000368.5(TSC1):c.*3737C>A rs886063576
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.*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.*4622G>A rs886063564
NM_000368.5(TSC1):c.*4631dup rs60000611
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.-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.1934C>T (p.Pro645Leu) rs1269162063
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_000548.5(TSC2):c.*23C>T rs774841226
NM_000548.5(TSC2):c.*61_*62del rs36032671
NM_000548.5(TSC2):c.*86T>G rs915706457
NM_000548.5(TSC2):c.-85G>C rs540716235
NM_000548.5(TSC2):c.-87A>G rs886051785
NM_000548.5(TSC2):c.1054G>A (p.Glu352Lys) rs1596298442
NM_000548.5(TSC2):c.1376G>A (p.Gly459Asp) rs886051788
NM_000548.5(TSC2):c.1479C>T (p.Leu493=) rs137854145
NM_000548.5(TSC2):c.1600-13C>G rs1800712
NM_000548.5(TSC2):c.1821G>C (p.Ala607=) rs149543046
NM_000548.5(TSC2):c.1843T>G (p.Phe615Val) rs1446136662
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.1912G>T (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.2047T>G (p.Ser683Ala) rs878854080
NM_000548.5(TSC2):c.2119A>G (p.Lys707Glu) rs1596347145
NM_000548.5(TSC2):c.2203T>G (p.Ser735Ala) rs753059579
NM_000548.5(TSC2):c.2221C>T (p.Leu741Phe) rs886051789
NM_000548.5(TSC2):c.2520C>T (p.Ala840=) rs147683438
NM_000548.5(TSC2):c.2545+3G>A rs2088950824
NM_000548.5(TSC2):c.258G>C (p.Ala86=) rs397514912
NM_000548.5(TSC2):c.2834A>G (p.Lys945Arg) rs886051791
NM_000548.5(TSC2):c.2838-5G>A rs876660419
NM_000548.5(TSC2):c.2848G>C (p.Ala950Pro) rs886051792
NM_000548.5(TSC2):c.3038A>G (p.Asp1013Gly) rs1060500961
NM_000548.5(TSC2):c.3196C>T (p.Leu1066Phe) rs886051793
NM_000548.5(TSC2):c.3778A>G (p.Thr1260Ala) rs1310948800
NM_000548.5(TSC2):c.3832C>G (p.Leu1278Val) rs374146919
NM_000548.5(TSC2):c.3890C>T (p.Ala1297Val) rs371239156
NM_000548.5(TSC2):c.3945A>G (p.Pro1315=) rs1811018177
NM_000548.5(TSC2):c.4216G>A (p.Asp1406Asn) rs147719291
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4493+15T>G rs2090547818
NM_000548.5(TSC2):c.4970T>A (p.Phe1657Tyr) rs878854112
NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu) rs760978505
NM_000548.5(TSC2):c.5267A>G (p.Glu1756Gly) rs886051797
NM_000548.5(TSC2):c.5301G>C (p.Leu1767=) rs886051798
NM_000548.5(TSC2):c.5391CTC[1] (p.Ser1799del) rs796053480
NM_000548.5(TSC2):c.79A>G (p.Asn27Asp) rs2084677815
NM_000548.5(TSC2):c.848+5G>T rs1370989559
NM_000548.5(TSC2):c.849-13G>A rs886051787

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