ClinVar Miner

List of variants studied for Lennox-Gastaut syndrome by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 365
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HGVS dbSNP
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.(?_92901218)_(92901319_?)del
NC_000015.10:g.(?_92901218)_(93040513_?)del
NC_000015.10:g.(?_92929010)_(92929111_?)del
NC_000015.10:g.(?_92939558)_(92944535_?)del
NC_000015.10:g.(?_92967305)_(93012464_?)del
NC_000015.10:g.(?_92996937)_(93014929_?)del
NC_000015.9:g.(?_93496567)_(93528923_?)dup
NM_001271.3(CHD2):c.3787dupG (p.Val1263Glyfs) rs869312877
NM_001271.4(CHD2):c.1017G>A (p.Glu339=) rs141957556
NM_001271.4(CHD2):c.1038C>T (p.Asp346=) rs148706063
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu) rs200120256
NM_001271.4(CHD2):c.1053G>A (p.Trp351Ter) rs1555439714
NM_001271.4(CHD2):c.107A>T (p.Gln36Leu) rs1064794584
NM_001271.4(CHD2):c.1081G>T (p.Glu361Ter) rs1555439719
NM_001271.4(CHD2):c.1091A>G (p.Asn364Ser) rs143043614
NM_001271.4(CHD2):c.1133A>T (p.Gln378Leu)
NM_001271.4(CHD2):c.1135_1138del (p.Gln378_Ile379insTer) rs1567136357
NM_001271.4(CHD2):c.1139T>C (p.Val380Ala) rs1596397712
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.1170A>G (p.Lys390=) rs1342167975
NM_001271.4(CHD2):c.1172C>G (p.Ser391Cys) rs542243995
NM_001271.4(CHD2):c.1174A>G (p.Thr392Ala)
NM_001271.4(CHD2):c.1188A>G (p.Thr396=) rs199553245
NM_001271.4(CHD2):c.1214C>T (p.Pro405Leu) rs370464322
NM_001271.4(CHD2):c.1215G>A (p.Pro405=) rs144294063
NM_001271.4(CHD2):c.1220C>T (p.Pro407Leu) rs372219984
NM_001271.4(CHD2):c.1225A>C (p.Asn409His) rs531251618
NM_001271.4(CHD2):c.1233C>T (p.Pro411=) rs202188833
NM_001271.4(CHD2):c.1321A>T (p.Ile441Phe) rs763586960
NM_001271.4(CHD2):c.1382_1383delinsAAGTCTGAA (p.Leu461delinsGlnValTer) rs1567138270
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter) rs398123000
NM_001271.4(CHD2):c.153C>T (p.Ser51=) rs201752698
NM_001271.4(CHD2):c.1541dup (p.Thr516fs)
NM_001271.4(CHD2):c.1578G>A (p.Leu526=) rs763466775
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.1668A>G (p.Ala556=) rs1060504937
NM_001271.4(CHD2):c.1670C>T (p.Pro557Leu) rs1060503520
NM_001271.4(CHD2):c.1680C>T (p.Asn560=) rs368985360
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val) rs1060503518
NM_001271.4(CHD2):c.1720-155_1727delinsT rs1596406306
NM_001271.4(CHD2):c.1764G>A (p.Lys588=) rs139263117
NM_001271.4(CHD2):c.1769A>G (p.Asn590Ser) rs373555806
NM_001271.4(CHD2):c.1770C>T (p.Asn590=) rs149947056
NM_001271.4(CHD2):c.1771G>A (p.Ala591Thr) rs1060503521
NM_001271.4(CHD2):c.1773A>G (p.Ala591=) rs370425217
NM_001271.4(CHD2):c.1785A>G (p.Thr595=) rs1192477751
NM_001271.4(CHD2):c.1788T>C (p.Tyr596=) rs144093014
NM_001271.4(CHD2):c.1809+3G>A rs778257286
NM_001271.4(CHD2):c.180T>G (p.Ser60=) rs747415863
NM_001271.4(CHD2):c.1810-3T>C rs189339982
NM_001271.4(CHD2):c.1894dup (p.Thr632fs)
NM_001271.4(CHD2):c.1895_1896CT[1] (p.Leu633fs)
NM_001271.4(CHD2):c.1901T>C (p.Ile634Thr) rs757715547
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.1995G>A (p.Pro665=) rs747900073
NM_001271.4(CHD2):c.2001G>A (p.Lys667=)
NM_001271.4(CHD2):c.2092C>T (p.Leu698Phe)
NM_001271.4(CHD2):c.2098A>C (p.Arg700=) rs776453537
NM_001271.4(CHD2):c.2337A>G (p.Gly779=) rs138084718
NM_001271.4(CHD2):c.2352+4G>C rs1173333743
NM_001271.4(CHD2):c.2352+7_2352+9del rs775279701
NM_001271.4(CHD2):c.2353-10A>G rs190159225
NM_001271.4(CHD2):c.2358C>T (p.Leu786=) rs760012115
NM_001271.4(CHD2):c.235C>G (p.Leu79Val) rs1555437429
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg)
NM_001271.4(CHD2):c.2425C>T (p.Arg809Ter) rs146691368
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro) rs1596419511
NM_001271.4(CHD2):c.2438T>G (p.Phe813Cys)
NM_001271.4(CHD2):c.2577+7T>C rs146944583
NM_001271.4(CHD2):c.2597C>A (p.Ser866Ter)
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) rs1596427937
NM_001271.4(CHD2):c.2701G>A (p.Ala901Thr) rs1596427988
NM_001271.4(CHD2):c.2724G>A (p.Lys908=) rs775276311
NM_001271.4(CHD2):c.2728-3C>T rs2272460
NM_001271.4(CHD2):c.2730A>T (p.Val910=) rs77895180
NM_001271.4(CHD2):c.2765dup (p.Glu923fs) rs1555442886
NM_001271.4(CHD2):c.2785_2801delinsTG (p.Ala929_Val934delinsTer) rs1555442889
NM_001271.4(CHD2):c.2792A>G (p.Lys931Arg) rs753058189
NM_001271.4(CHD2):c.2810A>C (p.His937Pro)
NM_001271.4(CHD2):c.2835C>T (p.Thr945=) rs752124959
NM_001271.4(CHD2):c.2843G>A (p.Arg948Gln)
NM_001271.4(CHD2):c.294+5C>T rs777934535
NM_001271.4(CHD2):c.2973+4A>G rs202244266
NM_001271.4(CHD2):c.2977A>G (p.Met993Val)
NM_001271.4(CHD2):c.2998C>T (p.Arg1000Trp) rs758134774
NM_001271.4(CHD2):c.3126C>G (p.Asp1042Glu) rs150268140
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3171_3172del (p.Glu1058fs)
NM_001271.4(CHD2):c.3237+5T>G rs1015228436
NM_001271.4(CHD2):c.3238-3C>T rs1596437905
NM_001271.4(CHD2):c.3238-5C>T rs1555443468
NM_001271.4(CHD2):c.3279G>A (p.Arg1093=) rs774908145
NM_001271.4(CHD2):c.330G>A (p.Arg110=) rs138626801
NM_001271.4(CHD2):c.3315G>A (p.Thr1105=) rs138979360
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.4(CHD2):c.3346C>T (p.Arg1116Cys)
NM_001271.4(CHD2):c.3366T>C (p.Ser1122=) rs781574098
NM_001271.4(CHD2):c.3382G>A (p.Val1128Met) rs776091604
NM_001271.4(CHD2):c.3400G>A (p.Ala1134Thr) rs147466101
NM_001271.4(CHD2):c.3409C>T (p.Arg1137Ter) rs773860345
NM_001271.4(CHD2):c.3422A>G (p.Lys1141Arg) rs1471418780
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.3540C>T (p.Ser1180=) rs76621355
NM_001271.4(CHD2):c.3552A>G (p.Ala1184=) rs144292068
NM_001271.4(CHD2):c.3570G>A (p.Glu1190=) rs1304626183
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767
NM_001271.4(CHD2):c.3586G>A (p.Ala1196Thr)
NM_001271.4(CHD2):c.3596-10T>G rs1596446956
NM_001271.4(CHD2):c.3662C>T (p.Ser1221Phe)
NM_001271.4(CHD2):c.3735-6C>G rs1235843668
NM_001271.4(CHD2):c.3744A>G (p.Leu1248=) rs778897064
NM_001271.4(CHD2):c.3782G>A (p.Trp1261Ter)
NM_001271.4(CHD2):c.3803G>A (p.Arg1268His) rs1410226460
NM_001271.4(CHD2):c.381+1G>A
NM_001271.4(CHD2):c.382-9A>C rs1555437848
NM_001271.4(CHD2):c.3849A>G (p.Leu1283=) rs1356992069
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.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.3924G>A (p.Lys1308=) rs745873112
NM_001271.4(CHD2):c.3925C>T (p.Gln1309Ter)
NM_001271.4(CHD2):c.3979_3981AAG[1] (p.Lys1328del) rs1410645881
NM_001271.4(CHD2):c.4009G>T (p.Ala1337Ser)
NM_001271.4(CHD2):c.4025G>A (p.Arg1342Gln) rs143503275
NM_001271.4(CHD2):c.4034G>A (p.Arg1345Gln) rs751507887
NM_001271.4(CHD2):c.4034G>C (p.Arg1345Pro) rs751507887
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870
NM_001271.4(CHD2):c.4078G>A (p.Gly1360Arg) rs146655995
NM_001271.4(CHD2):c.4079G>A (p.Gly1360Glu) rs1567159136
NM_001271.4(CHD2):c.4106C>G (p.Ser1369Ter) rs1567159145
NM_001271.4(CHD2):c.4138-6T>C rs182330071
NM_001271.4(CHD2):c.4165A>C (p.Lys1389Gln) rs762950368
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4174C>T (p.Gln1392Ter) rs3210462
NM_001271.4(CHD2):c.4191_4199CAAGGAGAA[1] (p.1397_1399NKE[1])
NM_001271.4(CHD2):c.4213A>G (p.Met1405Val)
NM_001271.4(CHD2):c.4219T>A (p.Ser1407Thr) rs61756301
NM_001271.4(CHD2):c.4219_4220delinsAT (p.Ser1407Ile) rs1567159959
NM_001271.4(CHD2):c.4231_4233del (p.Lys1411del) rs746694647
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001271.4(CHD2):c.4258T>G (p.Ser1420Ala)
NM_001271.4(CHD2):c.4274A>G (p.Glu1425Gly) rs1304514223
NM_001271.4(CHD2):c.4278+4ATG[3] rs780977518
NM_001271.4(CHD2):c.4278+5T>C rs202174434
NM_001271.4(CHD2):c.4278+7A>T rs1000622773
NM_001271.4(CHD2):c.4284A>G (p.Lys1428=) rs35339954
NM_001271.4(CHD2):c.4315A>G (p.Lys1439Glu) rs368570245
NM_001271.4(CHD2):c.4319G>T (p.Arg1440Leu) rs374157769
NM_001271.4(CHD2):c.4321T>G (p.Ser1441Ala)
NM_001271.4(CHD2):c.4363C>G (p.Pro1455Ala) rs1184559933
NM_001271.4(CHD2):c.4483G>A (p.Val1495Met) rs770993927
NM_001271.4(CHD2):c.44T>C (p.Leu15Pro) rs1060503522
NM_001271.4(CHD2):c.4505C>G (p.Thr1502Ser) rs956620619
NM_001271.4(CHD2):c.4512C>T (p.Asn1504=) rs750989875
NM_001271.4(CHD2):c.4518G>A (p.Leu1506=) rs557766333
NM_001271.4(CHD2):c.4527C>T (p.Ile1509=) rs34315566
NM_001271.4(CHD2):c.4542C>T (p.Ala1514=) rs147115056
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.4599A>G (p.Leu1533=) rs150640503
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe) rs1596456893
NM_001271.4(CHD2):c.4644G>A (p.Leu1548=) rs138836603
NM_001271.4(CHD2):c.4668T>C (p.His1556=) rs749555682
NM_001271.4(CHD2):c.4688A>G (p.Glu1563Gly)
NM_001271.4(CHD2):c.4692+7T>C rs748728212
NM_001271.4(CHD2):c.4721G>A (p.Gly1574Glu) rs56227200
NM_001271.4(CHD2):c.4721G>C (p.Gly1574Ala) rs56227200
NM_001271.4(CHD2):c.4724G>C (p.Gly1575Ala)
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715
NM_001271.4(CHD2):c.4807C>T (p.Pro1603Ser) rs144395162
NM_001271.4(CHD2):c.481G>A (p.Glu161Lys) rs1555438837
NM_001271.4(CHD2):c.4832C>T (p.Ser1611Phe) rs893203290
NM_001271.4(CHD2):c.486A>C (p.Gln162His) rs1018764419
NM_001271.4(CHD2):c.4874A>G (p.Asn1625Ser) rs143431217
NM_001271.4(CHD2):c.4897del (p.Ser1633fs)
NM_001271.4(CHD2):c.4900_4906delinsT (p.Asn1634_Asp1636delinsTyr) rs1555445701
NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr)
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile)
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_001271.4(CHD2):c.4917C>A (p.Asp1639Glu) rs575697793
NM_001271.4(CHD2):c.4944_4946TGG[2] (p.Gly1651del)
NM_001271.4(CHD2):c.4953C>T (p.Gly1651=) rs201939255
NM_001271.4(CHD2):c.4958A>G (p.Asn1653Ser)
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter) rs398122998
NM_001271.4(CHD2):c.4976G>A (p.Ser1659Asn) rs748829883
NM_001271.4(CHD2):c.4978G>A (p.Asp1660Asn) rs61752830
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.5033G>A (p.Arg1678Gln) rs201628571
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter) rs797044912
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr) rs747794466
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271.4(CHD2):c.5050C>T (p.His1684Tyr) rs746849506
NM_001271.4(CHD2):c.5063_5064delinsAT (p.Ser1688Asn) rs1555446342
NM_001271.4(CHD2):c.5068C>T (p.Arg1690Ter) rs761127171
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser)
NM_001271.4(CHD2):c.5078A>G (p.Asn1693Ser)
NM_001271.4(CHD2):c.5083T>C (p.Ser1695Pro)
NM_001271.4(CHD2):c.5104C>G (p.Gln1702Glu)
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469
NM_001271.4(CHD2):c.5134_5135CA[1] (p.His1712fs)
NM_001271.4(CHD2):c.5146T>G (p.Tyr1716Asp) rs1555446358
NM_001271.4(CHD2):c.516A>G (p.Gln172=) rs770631510
NM_001271.4(CHD2):c.5174G>A (p.Arg1725Gln)
NM_001271.4(CHD2):c.5227C>T (p.Arg1743Ter) rs1596463906
NM_001271.4(CHD2):c.5233_5236del (p.Ser1745fs)
NM_001271.4(CHD2):c.5242C>T (p.Arg1748Cys)
NM_001271.4(CHD2):c.5247C>T (p.Pro1749=) rs766244767
NM_001271.4(CHD2):c.5248G>T (p.Ala1750Ser) rs753595749
NM_001271.4(CHD2):c.5268G>C (p.Gln1756His) rs201950393
NM_001271.4(CHD2):c.5279A>G (p.Asp1760Gly) rs1596463935
NM_001271.4(CHD2):c.5326C>G (p.Pro1776Ala) rs371006816
NM_001271.4(CHD2):c.532A>G (p.Arg178Gly) rs1596390679
NM_001271.4(CHD2):c.5354C>T (p.Ser1785Leu) rs1265214152
NM_001271.4(CHD2):c.5363G>A (p.Arg1788His)
NM_001271.4(CHD2):c.5389C>T (p.His1797Tyr) rs754174173
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.585G>A (p.Pro195=) rs371325259
NM_001271.4(CHD2):c.594G>C (p.Gln198His) rs374064833
NM_001271.4(CHD2):c.595C>A (p.Arg199Ser) rs764705223
NM_001271.4(CHD2):c.600A>G (p.Gly200=) rs1057522302
NM_001271.4(CHD2):c.602A>T (p.Lys201Met) rs1369732003
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037
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.677C>T (p.Ala226Val)
NM_001271.4(CHD2):c.688G>A (p.Val230Ile) rs762370978
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_001271.4(CHD2):c.739G>T (p.Glu247Ter) rs1567135138
NM_001271.4(CHD2):c.758T>C (p.Val253Ala) rs773621487
NM_001271.4(CHD2):c.826+4T>C rs369930157
NM_001271.4(CHD2):c.835G>A (p.Ala279Thr) rs1313540517
NM_001271.4(CHD2):c.854C>T (p.Ala285Val) rs544867753
NM_001271.4(CHD2):c.855G>A (p.Ala285=) rs138796857
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.879_883del (p.Ser293fs) rs1060503517
NM_001271.4(CHD2):c.891C>T (p.Asp297=) rs567353575
NM_001271.4(CHD2):c.907G>A (p.Gly303Ser) rs200687736
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554
NM_001271.4(CHD2):c.98C>T (p.Ser33Leu) rs377012056
NM_004408.4(DNM1):c.103G>T (p.Ala35Ser) rs1404767209
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg) rs1554774587
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly)
NM_004408.4(DNM1):c.1098C>T (p.Phe366=) rs532535557
NM_004408.4(DNM1):c.1146G>A (p.Lys382=) rs150617335
NM_004408.4(DNM1):c.1161G>A (p.Glu387=) rs998519750
NM_004408.4(DNM1):c.1176C>T (p.Ile392=) rs760314213
NM_004408.4(DNM1):c.117C>T (p.Gly39=) rs142432944
NM_004408.4(DNM1):c.1196+4C>T
NM_004408.4(DNM1):c.1196+5G>A
NM_004408.4(DNM1):c.1196+8T>C rs1588370851
NM_004408.4(DNM1):c.1197-6G>A rs767877912
NM_004408.4(DNM1):c.1197-7C>T rs41306488
NM_004408.4(DNM1):c.1200G>A (p.Thr400=) rs373198034
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu) rs866836375
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter) rs200535620
NM_004408.4(DNM1):c.1315G>A (p.Val439Ile) rs771062230
NM_004408.4(DNM1):c.1335+8G>A rs374438127
NM_004408.4(DNM1):c.1336-7T>C rs550764968
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.1350G>T (p.Pro450=) rs147897973
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln) rs750296552
NM_004408.4(DNM1):c.1386C>T (p.Thr462=) rs372666180
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val) rs992608425
NM_004408.4(DNM1):c.1401C>T (p.Arg467=)
NM_004408.4(DNM1):c.1409G>A (p.Arg470His) rs763830358
NM_004408.4(DNM1):c.1422+6C>T rs773817727
NM_004408.4(DNM1):c.1422+7C>A rs761674210
NM_004408.4(DNM1):c.1423-8C>A rs555786484
NM_004408.4(DNM1):c.1437C>T (p.Ile479=) rs141788807
NM_004408.4(DNM1):c.1443C>T (p.Ile481=) rs778321233
NM_004408.4(DNM1):c.1493+14del rs371426966
NM_004408.4(DNM1):c.1558-3C>T rs546517702
NM_004408.4(DNM1):c.1568A>G (p.Lys523Arg)
NM_004408.4(DNM1):c.1586A>G (p.Asn529Ser) rs150040014
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.1662G>A (p.Lys554=) rs371589347
NM_004408.4(DNM1):c.1707C>T (p.Asn569=) rs145318071
NM_004408.4(DNM1):c.1764C>T (p.Leu588=) rs111534551
NM_004408.4(DNM1):c.1772C>T (p.Thr591Met) rs772239774
NM_004408.4(DNM1):c.1782-9A>G rs201739236
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile) rs1588449769
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys) rs1588449811
NM_004408.4(DNM1):c.1850A>G (p.Lys617Arg) rs1564352065
NM_004408.4(DNM1):c.1889T>C (p.Val630Ala)
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg)
NM_004408.4(DNM1):c.1893+9C>A rs769121301
NM_004408.4(DNM1):c.1906-6T>C rs138961089
NM_004408.4(DNM1):c.1932C>T (p.Ser644=) rs750934085
NM_004408.4(DNM1):c.1933G>A (p.Asp645Asn)
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr) rs1437208936
NM_004408.4(DNM1):c.2028C>G (p.Thr676=) rs1339784958
NM_004408.4(DNM1):c.2076+4C>T rs374379668
NM_004408.4(DNM1):c.2133G>A (p.Gln711=) rs1277551348
NM_004408.4(DNM1):c.2156C>G (p.Ala719Gly)
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly) rs1588457823
NM_004408.4(DNM1):c.216G>A (p.Gln72=) rs781185286
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln)
NM_004408.4(DNM1):c.2187G>A (p.Leu729=) rs749382749
NM_004408.4(DNM1):c.224A>G (p.Asn75Ser) rs551214260
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg)
NM_004408.4(DNM1):c.2318+10C>T
NM_004408.4(DNM1):c.2322G>T (p.Ser774=) rs566718787
NM_004408.4(DNM1):c.235+8C>T rs370555560
NM_004408.4(DNM1):c.2360C>T (p.Ala787Val) rs1363606775
NM_004408.4(DNM1):c.2361C>T (p.Ala787=) rs1041513039
NM_004408.4(DNM1):c.2364G>A (p.Val788=) rs904300233
NM_004408.4(DNM1):c.2418G>T (p.Gly806=) rs1413872976
NM_004408.4(DNM1):c.2420C>G (p.Ser807Cys) rs935756107
NM_004408.4(DNM1):c.2427G>T (p.Leu809=) rs897409469
NM_004408.4(DNM1):c.2429G>T (p.Gly810Val) rs888747029
NM_004408.4(DNM1):c.2430G>A (p.Gly810=) rs1007155416
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.2540C>T (p.Ser847Leu) rs199498658
NM_004408.4(DNM1):c.2541G>A (p.Ser847=) rs545142847
NM_004408.4(DNM1):c.332C>G (p.Thr111Ser) rs192913494
NM_004408.4(DNM1):c.357T>C (p.Pro119=) rs77325628
NM_004408.4(DNM1):c.383A>G (p.His128Arg) rs368475266
NM_004408.4(DNM1):c.402G>A (p.Leu134=) rs777767122
NM_004408.4(DNM1):c.411G>T (p.Leu137=) rs1051766292
NM_004408.4(DNM1):c.414C>T (p.Pro138=) rs141748215
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959
NM_004408.4(DNM1):c.44G>A (p.Arg15Gln) rs763288862
NM_004408.4(DNM1):c.450C>G (p.Pro150=) rs143834670
NM_004408.4(DNM1):c.46C>A (p.Leu16Met) rs61757224
NM_004408.4(DNM1):c.588G>A (p.Gln196=)
NM_004408.4(DNM1):c.599C>T (p.Thr200Ile)
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.624C>T (p.Asp208=) rs1395270062
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr) rs1588355906
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr) rs766504829
NM_004408.4(DNM1):c.6C>T (p.Gly2=)
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp) rs760270633
NM_004408.4(DNM1):c.747C>T (p.Thr249=) rs141651183
NM_004408.4(DNM1):c.766C>T (p.Arg256Ter)
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu)
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929
NM_004408.4(DNM1):c.797G>A (p.Arg266His) rs200136679
NM_004408.4(DNM1):c.804G>A (p.Leu268=)
NM_004408.4(DNM1):c.81G>A (p.Ala27=) rs1268920821
NM_004408.4(DNM1):c.824C>T (p.Pro275Leu)
NM_004408.4(DNM1):c.825C>G (p.Pro275=) rs1588357060
NM_004408.4(DNM1):c.849+6C>T rs527412689
NM_004408.4(DNM1):c.853C>T (p.Leu285=) rs546034278
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.920T>C (p.Ile307Thr) rs1052613908

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