ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.946C>T (p.Arg316Trp) rs535868591 0.00005
NM_000368.5(TSC1):c.-144G>A rs796053468 0.00003
NM_000368.5(TSC1):c.1949A>G (p.Asp650Gly) rs939275328 0.00003
NM_000368.5(TSC1):c.2930A>G (p.Lys977Arg) rs1433723046 0.00003
NM_000368.5(TSC1):c.503A>C (p.Lys168Thr) rs1007335343 0.00003
NM_000368.5(TSC1):c.840A>G (p.Gln280=) rs1171852730 0.00003
NM_000368.5(TSC1):c.941C>T (p.Thr314Met) rs373454700 0.00003
NM_000368.5(TSC1):c.1030-14T>A rs180810228 0.00002
NM_000368.5(TSC1):c.1256C>G (p.Pro419Arg) rs878853959 0.00002
NM_000368.5(TSC1):c.167C>T (p.Pro56Leu) rs750512029 0.00002
NM_000368.5(TSC1):c.2030C>T (p.Thr677Ile) rs779584449 0.00002
NM_000368.5(TSC1):c.370A>G (p.Thr124Ala) rs745871522 0.00002
NM_000368.5(TSC1):c.379G>A (p.Val127Ile) rs372215435 0.00002
NM_000368.5(TSC1):c.542A>T (p.His181Leu) rs397515294 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr) rs752290177 0.00002
NM_000368.5(TSC1):c.109C>T (p.Arg37Cys) rs1309560054 0.00001
NM_000368.5(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512 0.00001
NM_000368.5(TSC1):c.1217A>G (p.Tyr406Cys) rs143502728 0.00001
NM_000368.5(TSC1):c.1277_1279del (p.Asp426_Ser427delinsAla) rs1203057835 0.00001
NM_000368.5(TSC1):c.1429_1431del (p.Lys477del) rs796053469 0.00001
NM_000368.5(TSC1):c.1594A>T (p.Asn532Tyr) rs765149885 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000368.5(TSC1):c.1800G>C (p.Gln600His) rs1254353359 0.00001
NM_000368.5(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817 0.00001
NM_000368.5(TSC1):c.1871C>T (p.Thr624Ile) rs754401816 0.00001
NM_000368.5(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306 0.00001
NM_000368.5(TSC1):c.23G>C (p.Gly8Ala) rs1269896419 0.00001
NM_000368.5(TSC1):c.2434A>G (p.Ile812Val) rs751128287 0.00001
NM_000368.5(TSC1):c.2867A>G (p.Gln956Arg) rs1212768461 0.00001
NM_000368.5(TSC1):c.2897A>G (p.Tyr966Cys) rs762213436 0.00001
NM_000368.5(TSC1):c.28C>T (p.Leu10Phe) rs1399717425 0.00001
NM_000368.5(TSC1):c.2976-2A>G rs1588288463 0.00001
NM_000368.5(TSC1):c.2995G>A (p.Gly999Arg) rs780224196 0.00001
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462 0.00001
NM_000368.5(TSC1):c.3268A>G (p.Met1090Val) rs776694051 0.00001
NM_000368.5(TSC1):c.418C>G (p.Leu140Val) rs1554819915 0.00001
NM_000368.5(TSC1):c.458A>G (p.Asp153Gly) rs1846674570 0.00001
NM_000368.5(TSC1):c.527A>G (p.Tyr176Cys) rs1060503209 0.00001
NM_000368.5(TSC1):c.884G>C (p.Ser295Thr) rs1415705359 0.00001
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.1036C>T (p.Leu346Phe) rs2131964723
NM_000368.5(TSC1):c.1059_1060insTAC (p.Cys353_Gly354insTyr) rs2131962787
NM_000368.5(TSC1):c.109C>A (p.Arg37Ser) rs1309560054
NM_000368.5(TSC1):c.10C>T (p.Gln4Ter) rs753838459
NM_000368.5(TSC1):c.1109C>T (p.Ser370Leu) rs796053457
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu) rs1845926660
NM_000368.5(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.5(TSC1):c.1211A>T (p.Asp404Val) rs1554817130
NM_000368.5(TSC1):c.1234C>A (p.Pro412Thr) rs2131939930
NM_000368.5(TSC1):c.1250C>A (p.Thr417Lys) rs77464996
NM_000368.5(TSC1):c.1253C>T (p.Pro418Leu)
NM_000368.5(TSC1):c.1256C>A (p.Pro419His) rs878853959
NM_000368.5(TSC1):c.1298A>G (p.His433Arg) rs1554816403
NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg) rs760470520
NM_000368.5(TSC1):c.1332A>C (p.Ser444=) rs773003016
NM_000368.5(TSC1):c.1403C>G (p.Ser468Cys) rs1845695519
NM_000368.5(TSC1):c.1410A>G (p.Glu470=) rs2131863384
NM_000368.5(TSC1):c.1451G>C (p.Arg484Thr) rs2131850238
NM_000368.5(TSC1):c.1454A>T (p.Glu485Val) rs2131850010
NM_000368.5(TSC1):c.1456C>G (p.Leu486Val) rs2131849950
NM_000368.5(TSC1):c.1462G>C (p.Glu488Gln) rs118203533
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp) rs1243886871
NM_000368.5(TSC1):c.1551G>T (p.Arg517=) rs2131842617
NM_000368.5(TSC1):c.1582_1602del (p.Gly528_Glu534del) rs766376606
NM_000368.5(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.5(TSC1):c.1670T>C (p.Leu557Pro) rs1064796040
NM_000368.5(TSC1):c.1753C>T (p.Pro585Ser) rs766367103
NM_000368.5(TSC1):c.1771C>T (p.Pro591Ser) rs1429666367
NM_000368.5(TSC1):c.1777A>G (p.Arg593Gly) rs118203581
NM_000368.5(TSC1):c.1813G>A (p.Asp605Asn) rs1588309025
NM_000368.5(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
NM_000368.5(TSC1):c.1866G>T (p.Arg622Ser)
NM_000368.5(TSC1):c.1874A>C (p.Glu625Ala) rs886038287
NM_000368.5(TSC1):c.1897G>A (p.Gly633Arg) rs1471587230
NM_000368.5(TSC1):c.192G>T (p.Leu64Phe) rs1554820635
NM_000368.5(TSC1):c.1986G>T (p.Lys662Asn)
NM_000368.5(TSC1):c.1988A>T (p.Glu663Val) rs1845605103
NM_000368.5(TSC1):c.1997+5G>C rs1554815679
NM_000368.5(TSC1):c.2033A>G (p.His678Arg) rs745413532
NM_000368.5(TSC1):c.2071C>T (p.Leu691Phe) rs1554815343
NM_000368.5(TSC1):c.2103G>A (p.Gln701=) rs118203639
NM_000368.5(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.5(TSC1):c.2213A>T (p.Asp738Val) rs1350928783
NM_000368.5(TSC1):c.2302C>T (p.Arg768Cys) rs1588301564
NM_000368.5(TSC1):c.2339G>A (p.Arg780Lys) rs1845445479
NM_000368.5(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.5(TSC1):c.2393C>T (p.Thr798Met) rs1331635112
NM_000368.5(TSC1):c.2413A>G (p.Asn805Asp) rs1845380748
NM_000368.5(TSC1):c.2449G>T (p.Ala817Ser) rs1554814652
NM_000368.5(TSC1):c.2503-11T>A rs201568350
NM_000368.5(TSC1):c.2503-11T>G rs201568350
NM_000368.5(TSC1):c.2514T>G (p.Ser838Arg) rs786203259
NM_000368.5(TSC1):c.256C>T (p.Arg86Cys) rs1463772907
NM_000368.5(TSC1):c.2607G>C (p.Lys869Asn) rs1845327520
NM_000368.5(TSC1):c.2635A>C (p.Met879Leu) rs778416424
NM_000368.5(TSC1):c.2635A>G (p.Met879Val) rs778416424
NM_000368.5(TSC1):c.2640G>A (p.Met880Ile) rs1218889799
NM_000368.5(TSC1):c.2692C>A (p.Gln898Lys) rs118203728
NM_000368.5(TSC1):c.2785T>C (p.Tyr929His) rs1845137965
NM_000368.5(TSC1):c.2807A>G (p.Gln936Arg) rs2131630505
NM_000368.5(TSC1):c.2843A>G (p.Tyr948Cys) rs989183765
NM_000368.5(TSC1):c.2873T>G (p.Phe958Cys) rs2131626774
NM_000368.5(TSC1):c.2891A>T (p.Asp964Val) rs1554813302
NM_000368.5(TSC1):c.2948C>G (p.Ala983Gly) rs2131623702
NM_000368.5(TSC1):c.2949_2957del (p.985AAE[1]) rs767902029
NM_000368.5(TSC1):c.2966C>T (p.Ala989Val) rs1554813219
NM_000368.5(TSC1):c.2972_2975del (p.Glu991fs)
NM_000368.5(TSC1):c.2975+1G>A
NM_000368.5(TSC1):c.2984G>A (p.Cys995Tyr) rs144314195
NM_000368.5(TSC1):c.2996G>T (p.Gly999Val) rs1845089126
NM_000368.5(TSC1):c.3035C>G (p.Ser1012Cys)
NM_000368.5(TSC1):c.3045C>A (p.Asn1015Lys) rs759047948
NM_000368.5(TSC1):c.304T>C (p.Ser102Pro) rs796053453
NM_000368.5(TSC1):c.3063del (p.Arg1022fs) rs2131612319
NM_000368.5(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000368.5(TSC1):c.3129_3130insAGCATCAGC (p.Ser1043_Glu1044insSerIleSer) rs1588287475
NM_000368.5(TSC1):c.3200T>C (p.Met1067Thr) rs1167362899
NM_000368.5(TSC1):c.3209C>T (p.Ala1070Val) rs1060503200
NM_000368.5(TSC1):c.3250T>C (p.Ser1084Pro) rs796053463
NM_000368.5(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.5(TSC1):c.3293A>G (p.Asn1098Ser) rs1554812687
NM_000368.5(TSC1):c.3305G>A (p.Ser1102Asn) rs1263464680
NM_000368.5(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.5(TSC1):c.3375G>C (p.Leu1125Phe)
NM_000368.5(TSC1):c.3389A>G (p.Lys1130Arg) rs1588286359
NM_000368.5(TSC1):c.3403C>G (p.Leu1135Val) rs749612772
NM_000368.5(TSC1):c.3412C>T (p.Pro1138Ser) rs2131589157
NM_000368.5(TSC1):c.3417C>A (p.His1139Gln) rs756737864
NM_000368.5(TSC1):c.341CTT[1] (p.Ser115del) rs1846809072
NM_000368.5(TSC1):c.3487C>T (p.His1163Tyr) rs2131585152
NM_000368.5(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.5(TSC1):c.363+3_363+18del rs1554820251
NM_000368.5(TSC1):c.365T>C (p.Met122Thr) rs796053454
NM_000368.5(TSC1):c.368A>G (p.Asp123Gly)
NM_000368.5(TSC1):c.470T>G (p.Ile157Ser)
NM_000368.5(TSC1):c.508+3A>G rs1554819862
NM_000368.5(TSC1):c.514G>C (p.Val172Leu) rs952813051
NM_000368.5(TSC1):c.517G>A (p.Ala173Thr)
NM_000368.5(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.5(TSC1):c.59G>C (p.Gly20Ala)
NM_000368.5(TSC1):c.656T>G (p.Val219Gly)
NM_000368.5(TSC1):c.663G>A (p.Lys221=) rs868715706
NM_000368.5(TSC1):c.708A>G (p.Gly236=) rs2132135313
NM_000368.5(TSC1):c.770T>C (p.Ile257Thr) rs745640752
NM_000368.5(TSC1):c.785T>C (p.Ile262Thr) rs2132003570
NM_000368.5(TSC1):c.797C>T (p.Pro266Leu) rs1554817662
NM_000368.5(TSC1):c.835C>T (p.His279Tyr) rs1467020958
NM_000368.5(TSC1):c.886C>T (p.Pro296Ser) rs750890263
NM_000368.5(TSC1):c.889T>C (p.Tyr297His)
NM_000368.5(TSC1):c.892G>A (p.Ala298Thr) rs1846004547
NM_000368.5(TSC1):c.931C>G (p.Pro311Ala) rs1332186256

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.