ClinVar Miner

List of variants reported as uncertain significance for Lennox-Gastaut syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 155
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HGVS dbSNP
MAPK10, EX10-14DEL
NC_000009.12:g.(?_128203451)_(128203651_?)dup
NC_000009.12:g.(?_128234001)_(128234127_?)del
NC_000009.12:g.(?_128242212)_(128247506_?)del
NC_000015.10:g.(?_92996937)_(93014929_?)del
NC_000015.9:g.(?_93496567)_(93528923_?)dup
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu) rs1064794584
NM_001271.4(CHD2):c.1133A>T (p.Gln378Leu)
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala)
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys) rs542243995
NM_001271.4(CHD2):c.1174A>G (p.Thr392Ala)
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg) rs1567139944
NM_001271.4(CHD2):c.1618G>A (p.Val540Ile) rs1368222485
NM_001271.4(CHD2):c.1670C>T (p.Pro557Leu) rs1060503520
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) rs1060503518
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser) rs373555806
NM_001271.4(CHD2):c.1785A>G (p.Thr595=) rs1192477751
NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly) rs1567140845
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr) rs757715547
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser) rs768407397
NM_001271.4(CHD2):c.1994C>T (p.Pro665Leu) rs773901289
NM_001271.4(CHD2):c.2001G>A (p.Lys667=)
NM_001271.4(CHD2):c.2092C>T (p.Leu698Phe)
NM_001271.4(CHD2):c.2352+4G>C
NM_001271.4(CHD2):c.235C>G (p.Leu79Val) rs1555437429
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg)
NM_001271.4(CHD2):c.2438T>G (p.Phe813Cys)
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr)
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg) rs753058189
NM_001271.4(CHD2):c.2810A>C (p.His937Pro)
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)
NM_001271.4(CHD2):c.294+5C>T rs777934535
NM_001271.4(CHD2):c.2973G>A (p.Gln991=) rs903186613
NM_001271.4(CHD2):c.2977A>G (p.Met993Val)
NM_001271.4(CHD2):c.3237+5T>G rs1015228436
NM_001271.4(CHD2):c.3238-3C>T
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys)
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met)
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg)
NM_001271.4(CHD2):c.3487G>C (p.Val1163Leu) rs1555444210
NM_001271.4(CHD2):c.3538A>G (p.Ser1180Gly) rs759269259
NM_001271.4(CHD2):c.3586G>A (p.Ala1196Thr)
NM_001271.4(CHD2):c.3596-10T>G
NM_001271.4(CHD2):c.3640G>A (p.Gly1214Arg)
NM_001271.4(CHD2):c.3662C>T (p.Ser1221Phe)
NM_001271.4(CHD2):c.3735-6C>G
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His)
NM_001271.4(CHD2):c.3862C>T (p.Pro1288Ser)
NM_001271.4(CHD2):c.3885+4A>G rs1555444612
NM_001271.4(CHD2):c.3893C>T (p.Pro1298Leu) rs1273405855
NM_001271.4(CHD2):c.3979_3981AAG[1] (p.Lys1328del) rs1410645881
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln) rs143503275
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu) rs1567159136
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4213A>G (p.Met1405Val)
NM_001271.4(CHD2):c.4219_4220delinsAT (p.Ser1407Ile) rs1567159959
NM_001271.4(CHD2):c.4258T>G (p.Ser1420Ala)
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly)
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu) rs1567160905
NM_001271.4(CHD2):c.4315A>G (p.Lys1439Glu)
NM_001271.4(CHD2):c.4319G>T (p.Arg1440Leu)
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met)
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro) rs1060503522
NM_001271.4(CHD2):c.4559A>T (p.Tyr1520Phe)
NM_001271.4(CHD2):c.457C>G (p.Gln153Glu) rs755510106
NM_001271.4(CHD2):c.458A>G (p.Gln153Arg)
NM_001271.4(CHD2):c.4688A>G (p.Glu1563Gly)
NM_001271.4(CHD2):c.481G>A (p.Glu161Lys) rs1555438837
NM_001271.4(CHD2):c.486A>C (p.Gln162His)
NM_001271.4(CHD2):c.4897del (p.Ser1633fs)
NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr) rs1555445701
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu)
NM_001271.4(CHD2):c.4944_4946TGG[2] (p.Gly1651del)
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn) rs748829883
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216
NM_001271.4(CHD2):c.5002C>T (p.His1668Tyr) rs142534503
NM_001271.4(CHD2):c.5069G>A (p.Arg1690Gln) rs564787975
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser)
NM_001271.4(CHD2):c.5078A>G (p.Asn1693Ser)
NM_001271.4(CHD2):c.5134_5135CA[1] (p.His1712fs)
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter)
NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs)
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys)
NM_001271.4(CHD2):c.5248G>T (p.Ala1750Ser)
NM_001271.4(CHD2):c.5326C>G (p.Pro1776Ala) rs371006816
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly)
NM_001271.4(CHD2):c.5354C>T (p.Ser1785Leu)
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His)
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr)
NM_001271.4(CHD2):c.551+5A>C rs376498798
NM_001271.4(CHD2):c.568C>T (p.Arg190Cys) rs540770153
NM_001271.4(CHD2):c.574A>G (p.Lys192Glu) rs377701152
NM_001271.4(CHD2):c.584C>T (p.Pro195Leu)
NM_001271.4(CHD2):c.594G>C (p.Gln198His) rs374064833
NM_001271.4(CHD2):c.630G>T (p.Glu210Asp) rs749147803
NM_001271.4(CHD2):c.633T>G (p.Asp211Glu) rs768365369
NM_001271.4(CHD2):c.668G>A (p.Arg223His)
NM_001271.4(CHD2):c.688G>A (p.Val230Ile) rs762370978
NM_001271.4(CHD2):c.758T>C (p.Val253Ala) rs773621487
NM_001271.4(CHD2):c.827C>T (p.Ala276Val)
NM_001271.4(CHD2):c.835G>A (p.Ala279Thr) rs1313540517
NM_001271.4(CHD2):c.871G>A (p.Asp291Asn) rs201819533
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn) rs1555439526
NM_001271.4(CHD2):c.881G>T (p.Gly294Val) rs771390521
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu)
NM_001482.3(GATM):c.367G>A (p.Ala123Thr) rs1566840902
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser) rs1404767209
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.1196+5G>A
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu)
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter) rs200535620
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile)
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln) rs750296552
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val) rs992608425
NM_004408.4(DNM1):c.1401C>T (p.Arg467=)
NM_004408.4(DNM1):c.1422+6C>T
NM_004408.4(DNM1):c.1568A>G (p.Lys523Arg)
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile)
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys)
NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg) rs1564352065
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg)
NM_004408.4(DNM1):c.2028C>G (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2076+4C>T rs374379668
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly)
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln)
NM_004408.4(DNM1):c.224A>G (p.Asn75Ser) rs551214260
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg)
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val)
NM_004408.4(DNM1):c.2474C>T (p.Pro825Leu)
NM_004408.4(DNM1):c.2483C>T (p.Pro828Leu)
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn)
NM_004408.4(DNM1):c.383A>G (p.His128Arg) rs368475266
NM_004408.4(DNM1):c.402G>A (p.Leu134=)
NM_004408.4(DNM1):c.588G>A (p.Gln196=)
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr)
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr)
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu)
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
NM_004408.4(DNM1):c.804G>A (p.Leu268=)
NM_004408.4(DNM1):c.824C>T (p.Pro275Leu)
NM_004408.4(DNM1):c.849+6C>T rs527412689
NM_004408.4(DNM1):c.882G>A (p.Pro294=) rs559572430
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn) rs1564332436
NM_004408.4(DNM1):c.985C>G (p.Leu329Val)
NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp) rs1553960775

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