ClinVar Miner

Variants in gene TSC2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 292
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988 0.00077
NM_000548.5(TSC2):c.628G>A (p.Ala210Thr) rs147196739 0.00076
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_000548.5(TSC2):c.1512C>G (p.Val504=) rs146359990 0.00035
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000548.5(TSC2):c.5068+9G>A rs45445593 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995 0.00025
NM_000548.5(TSC2):c.5262C>G (p.Ile1754Met) rs397515318 0.00025
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189 0.00022
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500 0.00019
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00018
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379 0.00017
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.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100 0.00015
NM_000548.5(TSC2):c.4809C>T (p.Asp1603=) rs147578602 0.00015
NM_000548.5(TSC2):c.3379C>T (p.Arg1127Trp) rs373939435 0.00014
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801 0.00014
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409 0.00014
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595 0.00011
NM_000548.5(TSC2):c.4579T>C (p.Phe1527Leu) rs45514391 0.00011
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238 0.00010
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met) rs776738338 0.00008
NM_000548.5(TSC2):c.4569+12C>T rs45517350 0.00008
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314 0.00007
NM_000548.5(TSC2):c.710C>T (p.Pro237Leu) rs139060277 0.00007
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473 0.00006
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242 0.00006
NM_000548.5(TSC2):c.3358G>T (p.Val1120Leu) rs1053311636 0.00006
NM_000548.5(TSC2):c.3733C>T (p.Arg1245Trp) rs777489742 0.00006
NM_000548.5(TSC2):c.3883+6G>A rs757751865 0.00006
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631 0.00006
NM_000548.5(TSC2):c.5117G>A (p.Arg1706His) rs45517392 0.00006
NM_000548.5(TSC2):c.5265C>T (p.Cys1755=) rs141449031 0.00006
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994 0.00006
NM_000548.5(TSC2):c.5384G>A (p.Arg1795His) rs137854288 0.00006
NM_000548.5(TSC2):c.648+6T>C rs372007135 0.00006
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00005
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296 0.00005
NM_000548.5(TSC2):c.2220+4C>G rs781186613 0.00005
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836 0.00005
NM_000548.5(TSC2):c.3968C>T (p.Ala1323Val) rs397515062 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His) rs760395277 0.00005
NM_000548.5(TSC2):c.1365C>T (p.Ser455=) rs34567401 0.00004
NM_000548.5(TSC2):c.1600-9T>C rs886043268 0.00004
NM_000548.5(TSC2):c.1816A>G (p.Ile606Val) rs371074761 0.00004
NM_000548.5(TSC2):c.1931G>A (p.Cys644Tyr) rs758301934 0.00004
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168 0.00004
NM_000548.5(TSC2):c.2859C>T (p.Pro953=) rs397514968 0.00004
NM_000548.5(TSC2):c.2887G>A (p.Val963Met) rs45517275 0.00004
NM_000548.5(TSC2):c.3275C>T (p.Pro1092Leu) rs587781774 0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711 0.00004
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val) rs753907159 0.00004
NM_000548.5(TSC2):c.3871G>A (p.Val1291Ile) rs201135184 0.00004
NM_000548.5(TSC2):c.5130C>T (p.Phe1710=) rs760978505 0.00004
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His) rs766093661 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000548.5(TSC2):c.759C>T (p.Cys253=) rs45517125 0.00004
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788 0.00004
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148 0.00003
NM_000548.5(TSC2):c.1258-5G>T rs925954967 0.00003
NM_000548.5(TSC2):c.1627C>T (p.Pro543Ser) rs1060500944 0.00003
NM_000548.5(TSC2):c.1753C>T (p.Arg585Cys) rs370324876 0.00003
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267 0.00003
NM_000548.5(TSC2):c.1987C>T (p.Leu663Phe) rs747516623 0.00003
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249 0.00003
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753 0.00003
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492 0.00003
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305 0.00003
NM_000548.5(TSC2):c.336+14C>T rs570065416 0.00003
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406 0.00003
NM_000548.5(TSC2):c.4346C>T (p.Ser1449Phe) rs759004251 0.00003
NM_000548.5(TSC2):c.4397C>T (p.Ser1466Leu) rs45517341 0.00003
NM_000548.5(TSC2):c.4812C>A (p.Gly1604=) rs397515103 0.00003
NM_000548.5(TSC2):c.4849+4C>T rs370426490 0.00003
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His) rs201694466 0.00003
NM_000548.5(TSC2):c.493C>T (p.Leu165=) rs758521946 0.00003
NM_000548.5(TSC2):c.5017G>A (p.Val1673Ile) rs45490993 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu) rs200004126 0.00003
NM_000548.5(TSC2):c.583A>G (p.Ile195Val) rs148325559 0.00003
NM_000548.5(TSC2):c.673G>A (p.Val225Met) rs142919353 0.00003
NM_000548.5(TSC2):c.922C>T (p.Arg308Trp) rs201144475 0.00003
NM_000548.5(TSC2):c.1785G>A (p.Gln595=) rs150352976 0.00002
NM_000548.5(TSC2):c.1818C>T (p.Ile606=) rs547389841 0.00002
NM_000548.5(TSC2):c.1883G>A (p.Arg628His) rs774895427 0.00002
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242 0.00002
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736 0.00002
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) rs767252128 0.00002
NM_000548.5(TSC2):c.2404A>G (p.Ser802Gly) rs200929621 0.00002
NM_000548.5(TSC2):c.2621C>T (p.Pro874Leu) rs138527121 0.00002
NM_000548.5(TSC2):c.2968A>G (p.Arg990Gly) rs753730009 0.00002
NM_000548.5(TSC2):c.2996G>A (p.Ser999Asn) rs149808366 0.00002
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889 0.00002
NM_000548.5(TSC2):c.3526C>T (p.Pro1176Ser) rs1326077397 0.00002
NM_000548.5(TSC2):c.354C>G (p.Val118=) rs762228318 0.00002
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939 0.00002
NM_000548.5(TSC2):c.374A>G (p.Lys125Arg) rs767059758 0.00002
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540 0.00002
NM_000548.5(TSC2):c.3818C>T (p.Ala1273Val) rs749367382 0.00002
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035 0.00002
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168 0.00002
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738 0.00002
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) rs45517338 0.00002
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339 0.00002
NM_000548.5(TSC2):c.4461C>T (p.Ser1487=) rs777104003 0.00002
NM_000548.5(TSC2):c.4527C>G (p.Phe1509Leu) rs775919951 0.00002
NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) rs886051795 0.00002
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val) rs374066182 0.00002
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603 0.00002
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980 0.00002
NM_000548.5(TSC2):c.5311C>G (p.Pro1771Ala) rs777006583 0.00002
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405 0.00002
NM_000548.5(TSC2):c.975+7C>T rs372463702 0.00002
NM_000548.5(TSC2):c.*4C>T rs368282661 0.00001
NM_000548.5(TSC2):c.106A>G (p.Thr36Ala) rs757113497 0.00001
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val) rs796053483 0.00001
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys) rs397515142 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 0.00001
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178 0.00001
NM_000548.5(TSC2):c.1514G>A (p.Arg505Gln) rs376285784 0.00001
NM_000548.5(TSC2):c.152A>C (p.Glu51Ala) rs772617064 0.00001
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596 0.00001
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268 0.00001
NM_000548.5(TSC2):c.1754G>A (p.Arg585His) rs397515063 0.00001
NM_000548.5(TSC2):c.1944C>T (p.Tyr648=) rs878925198 0.00001
NM_000548.5(TSC2):c.1945A>G (p.Met649Val) rs762331610 0.00001
NM_000548.5(TSC2):c.2035G>A (p.Val679Met) rs746315218 0.00001
NM_000548.5(TSC2):c.2046G>A (p.Gly682=) rs749536123 0.00001
NM_000548.5(TSC2):c.2097+5G>C rs977777731 0.00001
NM_000548.5(TSC2):c.2128C>T (p.Leu710=) rs1225700612 0.00001
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310 0.00001
NM_000548.5(TSC2):c.2220+5C>T rs1164941572 0.00001
NM_000548.5(TSC2):c.2330A>G (p.His777Arg) rs759528809 0.00001
NM_000548.5(TSC2):c.2395C>T (p.Arg799Cys) rs1366556255 0.00001
NM_000548.5(TSC2):c.2416G>A (p.Val806Met) rs796053473 0.00001
NM_000548.5(TSC2):c.2467C>T (p.Leu823=) rs554509064 0.00001
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile) rs549612492 0.00001
NM_000548.5(TSC2):c.2553C>T (p.Ala851=) rs745687916 0.00001
NM_000548.5(TSC2):c.256G>A (p.Ala86Thr) rs1190158836 0.00001
NM_000548.5(TSC2):c.2586G>A (p.Ala862=) rs752865665 0.00001
NM_000548.5(TSC2):c.2701C>T (p.Arg901Cys) rs796053512 0.00001
NM_000548.5(TSC2):c.2742+3G>A rs373935836 0.00001
NM_000548.5(TSC2):c.2743-4C>T rs1258692002 0.00001
NM_000548.5(TSC2):c.2761C>G (p.Leu921Val) rs201835391 0.00001
NM_000548.5(TSC2):c.2823C>T (p.Asn941=) rs750806272 0.00001
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu) rs370415754 0.00001
NM_000548.5(TSC2):c.3088A>G (p.Met1030Val) rs754276150 0.00001
NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met) rs147989574 0.00001
NM_000548.5(TSC2):c.3284+6T>G rs375837026 0.00001
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852 0.00001
NM_000548.5(TSC2):c.3300G>A (p.Val1100=) rs765436350 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.3397+15C>T rs202246408 0.00001
NM_000548.5(TSC2):c.3521G>A (p.Arg1174Gln) rs368666554 0.00001
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu) rs751708490 0.00001
NM_000548.5(TSC2):c.3815-1G>A rs2090256621 0.00001
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041 0.00001
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn) rs375883030 0.00001
NM_000548.5(TSC2):c.4037C>T (p.Ser1346Leu) rs45517326 0.00001
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616 0.00001
NM_000548.5(TSC2):c.4074C>T (p.Pro1358=) rs144098854 0.00001
NM_000548.5(TSC2):c.4078G>A (p.Glu1360Lys) rs397514997 0.00001
NM_000548.5(TSC2):c.4176G>A (p.Gln1392=) rs749930791 0.00001
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=) rs1285012780 0.00001
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg) rs763497329 0.00001
NM_000548.5(TSC2):c.4414G>A (p.Gly1472Ser) rs558737770 0.00001
NM_000548.5(TSC2):c.4534G>A (p.Asp1512Asn) rs774441486 0.00001
NM_000548.5(TSC2):c.4570-3C>T rs1166715944 0.00001
NM_000548.5(TSC2):c.4577C>A (p.Ser1526Tyr) rs796053498 0.00001
NM_000548.5(TSC2):c.4617A>G (p.Ser1539=) rs201038907 0.00001
NM_000548.5(TSC2):c.4621G>A (p.Asp1541Asn) rs796872464 0.00001
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) rs751305758 0.00001
NM_000548.5(TSC2):c.4888G>A (p.Val1630Met) rs886051796 0.00001
NM_000548.5(TSC2):c.4950C>T (p.Tyr1650=) rs1283177454 0.00001
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met) rs775395648 0.00001
NM_000548.5(TSC2):c.5029G>A (p.Asp1677Asn) rs1163037065 0.00001
NM_000548.5(TSC2):c.5069-11A>G rs562381623 0.00001
NM_000548.5(TSC2):c.5069-5C>T rs762149472 0.00001
NM_000548.5(TSC2):c.5135C>T (p.Ala1712Val) rs45517394 0.00001
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val) rs45517407 0.00001
NM_000548.5(TSC2):c.5203A>G (p.Ile1735Val) rs781407050 0.00001
NM_000548.5(TSC2):c.5305C>T (p.His1769Tyr) rs1555441265 0.00001
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg) rs45517418 0.00001
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr) rs1245934608 0.00001
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919 0.00001
NM_000548.5(TSC2):c.5389A>C (p.Ile1797Leu) rs796053479 0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292 0.00001
NM_000548.5(TSC2):c.622C>T (p.Arg208Trp) rs374410454 0.00001
NM_000548.5(TSC2):c.629C>T (p.Ala210Val) rs764925296 0.00001
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser) rs762104739 0.00001
NM_000548.5(TSC2):c.849-6T>G rs886038358 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000548.5(TSC2):c.857T>C (p.Met286Thr) rs45517136 0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NM_000548.5(TSC2):c.893T>C (p.Phe298Ser) rs747310967 0.00001
NM_000548.5(TSC2):c.944C>T (p.Ser315Leu) rs202082319 0.00001
NM_000548.5(TSC2):c.947C>A (p.Pro316Gln) rs751490043 0.00001
NM_000548.5(TSC2):c.1014C>T (p.Ile338=) rs1250621196
NM_000548.5(TSC2):c.1119+3G>C rs79668097
NM_000548.5(TSC2):c.1134G>A (p.Pro378=) rs754343186
NM_000548.5(TSC2):c.1137G>A (p.Glu379=) rs1057519260
NM_000548.5(TSC2):c.1258-10C>G rs794727093
NM_000548.5(TSC2):c.1298C>G (p.Ser433Cys) rs397515187
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) rs376573446
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met) rs45517180
NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala) rs1204749633
NM_000548.5(TSC2):c.17G>A (p.Ser6Asn) rs758239066
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.1946+5G>T rs766646261
NM_000548.5(TSC2):c.2049_2050delinsTC (p.Val684Leu) rs1555506150
NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys) rs182538665
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2452A>G (p.Ile818Val) rs1596356585
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2639+6T>C rs2151382514
NM_000548.5(TSC2):c.264G>A (p.Leu88=) rs1466279830
NM_000548.5(TSC2):c.2742+6C>G rs377568673
NM_000548.5(TSC2):c.2788_2790delinsGAC (p.Lys930Asp) rs1060500935
NM_000548.5(TSC2):c.2838-3T>C rs553942147
NM_000548.5(TSC2):c.2967-1G>T rs1596382055
NM_000548.5(TSC2):c.30C>T (p.Gly10=) rs876659726
NM_000548.5(TSC2):c.3102C>T (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3281C>T (p.Ser1094Leu) rs397514887
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000548.5(TSC2):c.3396G>T (p.Ser1132=) rs373004429
NM_000548.5(TSC2):c.339C>T (p.Gly113=) rs368451664
NM_000548.5(TSC2):c.3425T>C (p.Leu1142Pro) rs796053513
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3565C>G (p.Leu1189Val) rs796053476
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr) rs147719291
NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys) rs369553241
NM_000548.5(TSC2):c.4368C>T (p.Leu1456=) rs1555514397
NM_000548.5(TSC2):c.4416C>T (p.Gly1472=) rs2090534289
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4465G>A (p.Ala1489Thr) rs587778740
NM_000548.5(TSC2):c.4498G>A (p.Val1500Met) rs397515167
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.4527C>A (p.Phe1509Leu) rs775919951
NM_000548.5(TSC2):c.4612C>T (p.Pro1538Ser) rs1060500930
NM_000548.5(TSC2):c.4663-11_4663-5del rs760527750
NM_000548.5(TSC2):c.4678G>A (p.Ala1560Thr) rs777539610
NM_000548.5(TSC2):c.4747G>A (p.Glu1583Lys) rs886039446
NM_000548.5(TSC2):c.4992C>T (p.Gly1664=) rs145002269
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5069-10G>A
NM_000548.5(TSC2):c.508G>A (p.Val170Ile) rs1596270815
NM_000548.5(TSC2):c.5161-5C>G rs775534948
NM_000548.5(TSC2):c.5219G>C (p.Trp1740Ser) rs137854219
NM_000548.5(TSC2):c.5268G>C (p.Glu1756Asp) rs755229386
NM_000548.5(TSC2):c.5269G>A (p.Glu1757Lys) rs1060500957
NM_000548.5(TSC2):c.5272G>C (p.Ala1758Pro) rs1555441169
NM_000548.5(TSC2):c.540G>A (p.Leu180=) rs1567403619
NM_000548.5(TSC2):c.599+3A>G rs397514899
NM_000548.5(TSC2):c.775-5C>G rs181827303
NM_000548.5(TSC2):c.833A>G (p.His278Arg) rs397515266
NM_000548.5(TSC2):c.849-13G>A rs886051787
NM_000548.5(TSC2):c.929A>G (p.Tyr310Cys) rs878854122

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