ClinVar Miner

List of variants reported as uncertain significance for Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.275G>A (p.Arg92His) rs145644817 0.00017
NM_000548.5(TSC2):c.2995A>T (p.Ser999Cys) rs777089012 0.00005
NM_000548.5(TSC2):c.-82G>T rs1391750751 0.00004
NM_000548.5(TSC2):c.3851A>G (p.Gln1284Arg) rs944693159 0.00004
NM_000548.5(TSC2):c.2015C>T (p.Pro672Leu) rs768864353 0.00003
NM_000548.5(TSC2):c.1113G>C (p.Gln371His) rs571767462 0.00002
NM_000548.5(TSC2):c.1928A>G (p.Tyr643Cys) rs1319342312 0.00002
NM_000548.5(TSC2):c.2012G>A (p.Gly671Asp) rs775881847 0.00002
NM_000548.5(TSC2):c.2023G>T (p.Ala675Ser) rs764840082 0.00002
NM_000548.5(TSC2):c.2967-15G>A rs375423568 0.00002
NM_000548.5(TSC2):c.3191A>G (p.Asn1064Ser) rs758690821 0.00002
NM_000548.5(TSC2):c.3226G>A (p.Gly1076Arg) rs747910305 0.00002
NM_000548.5(TSC2):c.3380G>A (p.Arg1127Gln) rs746197874 0.00002
NM_000548.5(TSC2):c.3551C>T (p.Ala1184Val) rs1060500939 0.00002
NM_000548.5(TSC2):c.3730C>T (p.His1244Tyr) rs993614997 0.00002
NM_000548.5(TSC2):c.3802C>T (p.Arg1268Cys) rs1020561347 0.00002
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405 0.00002
NM_000548.5(TSC2):c.1033C>T (p.Leu345Phe) rs397515146 0.00001
NM_000548.5(TSC2):c.1145C>T (p.Thr382Ile) rs758511419 0.00001
NM_000548.5(TSC2):c.1373G>A (p.Arg458Gln) rs878854077 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.1739C>G (p.Ala580Gly) rs765043471 0.00001
NM_000548.5(TSC2):c.1774A>G (p.Ser592Gly) rs910068556 0.00001
NM_000548.5(TSC2):c.1813C>G (p.Pro605Ala) rs1295352648 0.00001
NM_000548.5(TSC2):c.1870G>A (p.Asp624Asn) rs1334081822 0.00001
NM_000548.5(TSC2):c.2042T>C (p.Leu681Pro) rs878854079 0.00001
NM_000548.5(TSC2):c.2252G>A (p.Arg751Gln) rs749593050 0.00001
NM_000548.5(TSC2):c.233T>C (p.Val78Ala) rs1163221525 0.00001
NM_000548.5(TSC2):c.2372G>T (p.Cys791Phe) rs758961134 0.00001
NM_000548.5(TSC2):c.2515A>G (p.Met839Val) rs876660457 0.00001
NM_000548.5(TSC2):c.2780C>A (p.Thr927Asn) rs144329595 0.00001
NM_000548.5(TSC2):c.2917G>A (p.Glu973Lys) rs780981335 0.00001
NM_000548.5(TSC2):c.293G>A (p.Arg98Gln) rs1478204355 0.00001
NM_000548.5(TSC2):c.2941A>G (p.Ser981Gly) rs2089595149 0.00001
NM_000548.5(TSC2):c.3253T>C (p.Ser1085Pro) rs767655384 0.00001
NM_000548.5(TSC2):c.3392T>C (p.Met1131Thr) rs763122999 0.00001
NM_000548.5(TSC2):c.3787C>T (p.Pro1263Ser) rs1233661099 0.00001
NM_000548.5(TSC2):c.4232G>A (p.Ser1411Asn) rs1267811475 0.00001
NM_000548.5(TSC2):c.4256A>G (p.Gln1419Arg) rs562443546 0.00001
NM_000548.5(TSC2):c.4460C>G (p.Ser1487Cys) rs766916450 0.00001
NM_000548.5(TSC2):c.4561C>T (p.Pro1521Ser) rs1468281970 0.00001
NM_000548.5(TSC2):c.4568A>G (p.Glu1523Gly) rs777406873 0.00001
NM_000548.5(TSC2):c.4569+5G>A rs746446349 0.00001
NM_000548.5(TSC2):c.4915C>T (p.Arg1639Cys) rs1555438551 0.00001
NM_000548.5(TSC2):c.5165C>T (p.Ala1722Val) rs1373235682 0.00001
NM_000548.5(TSC2):c.646G>A (p.Glu216Lys) rs45517118 0.00001
NM_000548.5(TSC2):c.997G>T (p.Val333Leu) rs1336741146 0.00001
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.1096G>C (p.Glu366Gln) rs45517148
NM_000548.5(TSC2):c.1281C>G (p.Ile427Met) rs45478892
NM_000548.5(TSC2):c.1289G>C (p.Arg430Thr) rs2086770532
NM_000548.5(TSC2):c.1435T>C (p.Phe479Leu) rs2151173141
NM_000548.5(TSC2):c.1561A>G (p.Thr521Ala) rs1279109316
NM_000548.5(TSC2):c.1652C>T (p.Ala551Val) rs1465307943
NM_000548.5(TSC2):c.1671G>A (p.Leu557=) rs761975891
NM_000548.5(TSC2):c.1716+15C>G rs199964793
NM_000548.5(TSC2):c.1753C>G (p.Arg585Gly) rs370324876
NM_000548.5(TSC2):c.1762G>A (p.Glu588Lys) rs1596336374
NM_000548.5(TSC2):c.1885C>G (p.Leu629Val) rs570409651
NM_000548.5(TSC2):c.1905T>G (p.Asp635Glu) rs1596342515
NM_000548.5(TSC2):c.1912G>T (p.Val638Leu) rs587778730
NM_000548.5(TSC2):c.1982G>A (p.Gly661Asp) rs1213719461
NM_000548.5(TSC2):c.209C>A (p.Thr70Asn) rs1013995962
NM_000548.5(TSC2):c.2158A>G (p.Lys720Glu) rs1195091149
NM_000548.5(TSC2):c.2218A>G (p.Met740Val) rs757345150
NM_000548.5(TSC2):c.229G>T (p.Ala77Ser) rs777459404
NM_000548.5(TSC2):c.2324C>T (p.Ser775Phe) rs2088701360
NM_000548.5(TSC2):c.2329C>T (p.His777Tyr) rs1349953143
NM_000548.5(TSC2):c.2342A>G (p.Asp781Gly) rs2088705306
NM_000548.5(TSC2):c.2386C>G (p.Leu796Val) rs1596356291
NM_000548.5(TSC2):c.2396G>A (p.Arg799His) rs1567474646
NM_000548.5(TSC2):c.2417_2419dup (p.Val806dup) rs1298756950
NM_000548.5(TSC2):c.2596G>T (p.Ala866Ser) rs1555508378
NM_000548.5(TSC2):c.2607C>A (p.Phe869Leu) rs750336814
NM_000548.5(TSC2):c.2612T>C (p.Ile871Thr) rs2089269466
NM_000548.5(TSC2):c.2740A>C (p.Lys914Gln) rs1422374195
NM_000548.5(TSC2):c.2885C>T (p.Pro962Leu) rs367640434
NM_000548.5(TSC2):c.2904G>C (p.Glu968Asp) rs765438249
NM_000548.5(TSC2):c.2927G>C (p.Arg976Pro) rs779832805
NM_000548.5(TSC2):c.3052C>T (p.Leu1018Phe) rs1034696882
NM_000548.5(TSC2):c.3116C>T (p.Thr1039Met) rs1596382895
NM_000548.5(TSC2):c.3314C>T (p.Thr1105Ile) rs946381749
NM_000548.5(TSC2):c.3344_3364dup (p.Gln1115_Ser1121dup) rs1567500517
NM_000548.5(TSC2):c.3365G>T (p.Arg1122Leu) rs369536711
NM_000548.5(TSC2):c.365T>A (p.Leu122His) rs756263581
NM_000548.5(TSC2):c.37G>A (p.Glu13Lys) rs1555494586
NM_000548.5(TSC2):c.3870C>G (p.Ser1290Arg) rs754466663
NM_000548.5(TSC2):c.3875C>T (p.Ser1292Phe) rs796053497
NM_000548.5(TSC2):c.3899T>C (p.Met1300Thr) rs1349341137
NM_000548.5(TSC2):c.3956A>T (p.Asp1319Val) rs45517322
NM_000548.5(TSC2):c.3977T>C (p.Met1326Thr) rs2090429801
NM_000548.5(TSC2):c.4031A>G (p.Glu1344Gly) rs2090482288
NM_000548.5(TSC2):c.4063A>G (p.Arg1355Gly) rs1555513911
NM_000548.5(TSC2):c.411C>G (p.His137Gln) rs776129896
NM_000548.5(TSC2):c.4124C>T (p.Ser1375Phe) rs145476528
NM_000548.5(TSC2):c.4292C>G (p.Ser1431Trp) rs375785710
NM_000548.5(TSC2):c.4369C>T (p.Arg1457Trp) rs746729857
NM_000548.5(TSC2):c.4564A>G (p.Asn1522Asp) rs2090589266
NM_000548.5(TSC2):c.4565A>C (p.Asn1522Thr) rs144062721
NM_000548.5(TSC2):c.4569+3A>G rs2090590453
NM_000548.5(TSC2):c.4570-3_4570-2del rs2090619495
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) rs45517352
NM_000548.5(TSC2):c.4586G>A (p.Arg1529Gln) rs769834772
NM_000548.5(TSC2):c.4671C>G (p.Ser1557Arg) rs151140709
NM_000548.5(TSC2):c.4715C>T (p.Thr1572Met) rs1327099376
NM_000548.5(TSC2):c.4979G>T (p.Gly1660Val) rs1189857262
NM_000548.5(TSC2):c.501G>C (p.Trp167Cys) rs755728007
NM_000548.5(TSC2):c.5108T>C (p.Val1703Ala) rs45498401
NM_000548.5(TSC2):c.5130C>A (p.Phe1710Leu) rs760978505
NM_000548.5(TSC2):c.5204T>G (p.Ile1735Ser) rs786203769
NM_000548.5(TSC2):c.523G>C (p.Glu175Gln) rs1555498151
NM_000548.5(TSC2):c.5260-1G>A rs1057518103
NM_000548.5(TSC2):c.5344G>T (p.Ala1782Ser) rs1405712076
NM_000548.5(TSC2):c.5367G>C (p.Glu1789Asp) rs966695764
NM_000548.5(TSC2):c.641_648+1del rs2085795613
NM_000548.5(TSC2):c.722T>C (p.Val241Ala) rs888878542
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) rs878854122
NM_001009944.3(PKD1):c.11858T>C (p.Leu3953Pro) rs1596476599

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