ClinVar Miner

List of variants in gene NGLY1 reported as uncertain significance for Congenital disorder of deglycosylation

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Gene type:
ClinVar version:
Total variants: 286
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HGVS dbSNP gnomAD frequency
NM_018297.4(NGLY1):c.492+6G>A rs200608265 0.00022
NM_018297.4(NGLY1):c.1232G>A (p.Arg411Gln) rs142766875 0.00021
NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys) rs201442228 0.00020
NM_018297.4(NGLY1):c.1363C>T (p.Leu455Phe) rs375966958 0.00015
NM_018297.4(NGLY1):c.1355C>G (p.Pro452Arg) rs187892679 0.00013
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) rs748862974 0.00013
NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val) rs761035118 0.00010
NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp) rs754083716 0.00010
NM_018297.4(NGLY1):c.1804T>C (p.Ser602Pro) rs112709918 0.00007
NM_018297.4(NGLY1):c.53C>T (p.Ala18Val) rs776883349 0.00007
NM_018297.4(NGLY1):c.1268T>A (p.Leu423Gln) rs369598638 0.00006
NM_018297.4(NGLY1):c.1366G>C (p.Gly456Arg) rs746748010 0.00006
NM_018297.4(NGLY1):c.1447C>A (p.Pro483Thr) rs766828621 0.00006
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) rs144262689 0.00006
NM_018297.4(NGLY1):c.1649A>G (p.Tyr550Cys) rs373792768 0.00006
NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly) rs200463539 0.00006
NM_018297.4(NGLY1):c.404C>T (p.Pro135Leu) rs983411072 0.00006
NM_018297.4(NGLY1):c.818G>C (p.Trp273Ser) rs202027326 0.00006
NM_018297.4(NGLY1):c.841C>T (p.His281Tyr) rs200446388 0.00006
NM_018297.4(NGLY1):c.1235A>T (p.Asp412Val) rs778513258 0.00005
NM_018297.4(NGLY1):c.1260+4T>C rs377612106 0.00005
NM_018297.4(NGLY1):c.247-3C>A rs201806398 0.00005
NM_018297.4(NGLY1):c.1249C>T (p.Leu417Phe) rs777927774 0.00004
NM_018297.4(NGLY1):c.1304A>G (p.Gln435Arg) rs372323207 0.00004
NM_018297.4(NGLY1):c.1517G>A (p.Arg506Gln) rs146208989 0.00004
NM_018297.4(NGLY1):c.1808A>G (p.Tyr603Cys) rs777069327 0.00004
NM_018297.4(NGLY1):c.1889C>A (p.Thr630Asn) rs891240035 0.00004
NM_018297.4(NGLY1):c.286G>A (p.Glu96Lys) rs777476251 0.00004
NM_018297.4(NGLY1):c.508G>A (p.Ala170Thr) rs1261759648 0.00004
NM_018297.4(NGLY1):c.829G>C (p.Glu277Gln) rs948858807 0.00004
NM_018297.4(NGLY1):c.968T>C (p.Val323Ala) rs200601419 0.00004
NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe) rs1056459017 0.00003
NM_018297.4(NGLY1):c.1398A>T (p.Arg466Ser) rs1176823602 0.00003
NM_018297.4(NGLY1):c.1507C>T (p.Arg503Cys) rs745718089 0.00003
NM_018297.4(NGLY1):c.1771C>G (p.Gln591Glu) rs765145201 0.00003
NM_018297.4(NGLY1):c.1796G>A (p.Ser599Asn) rs903771343 0.00003
NM_018297.4(NGLY1):c.25T>A (p.Ser9Thr) rs748917973 0.00003
NM_018297.4(NGLY1):c.455G>A (p.Arg152His) rs762498007 0.00003
NM_018297.4(NGLY1):c.461G>A (p.Gly154Glu) rs375945206 0.00003
NM_018297.4(NGLY1):c.554A>G (p.Tyr185Cys) rs1185701065 0.00003
NM_018297.4(NGLY1):c.661A>G (p.Ile221Val) rs369388667 0.00003
NM_018297.4(NGLY1):c.8C>T (p.Ala3Val) rs746390289 0.00003
NM_018297.4(NGLY1):c.1042C>T (p.Arg348Trp) rs752318754 0.00002
NM_018297.4(NGLY1):c.1043G>A (p.Arg348Gln) rs1559535370 0.00002
NM_018297.4(NGLY1):c.1240A>G (p.Ile414Val) rs371004438 0.00002
NM_018297.4(NGLY1):c.1342A>C (p.Lys448Gln) rs770653213 0.00002
NM_018297.4(NGLY1):c.1781T>C (p.Leu594Pro) rs760957238 0.00002
NM_018297.4(NGLY1):c.1858A>G (p.Arg620Gly) rs746694378 0.00002
NM_018297.4(NGLY1):c.38C>T (p.Ala13Val) rs752321437 0.00002
NM_018297.4(NGLY1):c.452A>G (p.Asn151Ser) rs969104465 0.00002
NM_018297.4(NGLY1):c.460G>A (p.Gly154Arg) rs773019915 0.00002
NM_018297.4(NGLY1):c.491C>T (p.Thr164Met) rs749441809 0.00002
NM_018297.4(NGLY1):c.872G>A (p.Arg291Gln) rs769627493 0.00002
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr) rs763397227 0.00002
NM_018297.4(NGLY1):c.922C>T (p.Arg308Trp) rs768017869 0.00002
NM_018297.4(NGLY1):c.959G>C (p.Cys320Ser) rs1332390500 0.00002
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) rs761634625 0.00002
NM_018297.4(NGLY1):c.104T>A (p.Leu35Gln) rs769627540 0.00001
NM_018297.4(NGLY1):c.1063T>C (p.Cys355Arg) rs762908677 0.00001
NM_018297.4(NGLY1):c.11C>T (p.Ala4Val) rs1169138947 0.00001
NM_018297.4(NGLY1):c.1260G>C (p.Gln420His) rs142173456 0.00001
NM_018297.4(NGLY1):c.1261-3C>T rs1368590319 0.00001
NM_018297.4(NGLY1):c.1409G>A (p.Gly470Asp) rs759978728 0.00001
NM_018297.4(NGLY1):c.1415T>C (p.Met472Thr) rs1553652803 0.00001
NM_018297.4(NGLY1):c.1525A>G (p.Asn509Asp) rs1337509224 0.00001
NM_018297.4(NGLY1):c.1538C>G (p.Thr513Ser) rs1449409944 0.00001
NM_018297.4(NGLY1):c.1612-3T>C rs755773365 0.00001
NM_018297.4(NGLY1):c.1622C>T (p.Ala541Val) rs752138969 0.00001
NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu) rs1040190748 0.00001
NM_018297.4(NGLY1):c.164G>A (p.Arg55Gln) rs964624944 0.00001
NM_018297.4(NGLY1):c.1697G>A (p.Ser566Asn) rs150599828 0.00001
NM_018297.4(NGLY1):c.1714A>G (p.Ser572Gly) rs757626321 0.00001
NM_018297.4(NGLY1):c.1788C>T (p.Gly596=) rs775894258 0.00001
NM_018297.4(NGLY1):c.1799T>C (p.Leu600Pro) rs770140676 0.00001
NM_018297.4(NGLY1):c.182T>G (p.Phe61Cys) rs1405545152 0.00001
NM_018297.4(NGLY1):c.1876G>A (p.Ala626Thr) rs757269967 0.00001
NM_018297.4(NGLY1):c.1901G>C (p.Arg634Thr) rs148625951 0.00001
NM_018297.4(NGLY1):c.1945A>T (p.Ile649Leu) rs746609579 0.00001
NM_018297.4(NGLY1):c.1954A>G (p.Ser652Gly) rs1205548216 0.00001
NM_018297.4(NGLY1):c.1A>G (p.Met1Val) rs772627507 0.00001
NM_018297.4(NGLY1):c.200C>T (p.Pro67Leu) rs145752045 0.00001
NM_018297.4(NGLY1):c.259C>G (p.Leu87Val) rs765056703 0.00001
NM_018297.4(NGLY1):c.304C>T (p.Arg102Cys) rs375732599 0.00001
NM_018297.4(NGLY1):c.305G>A (p.Arg102His) rs750589736 0.00001
NM_018297.4(NGLY1):c.344G>C (p.Gly115Ala) rs571852877 0.00001
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn) rs752256415 0.00001
NM_018297.4(NGLY1):c.413C>G (p.Pro138Arg) rs746095871 0.00001
NM_018297.4(NGLY1):c.44C>G (p.Pro15Arg) rs754904758 0.00001
NM_018297.4(NGLY1):c.464A>G (p.Gln155Arg) rs1385762448 0.00001
NM_018297.4(NGLY1):c.493-4T>G rs1706735265 0.00001
NM_018297.4(NGLY1):c.521T>G (p.Val174Gly) rs1306695269 0.00001
NM_018297.4(NGLY1):c.52G>T (p.Ala18Ser) rs762706285 0.00001
NM_018297.4(NGLY1):c.530C>T (p.Ser177Phe) rs1706732934 0.00001
NM_018297.4(NGLY1):c.535A>G (p.Ile179Val) rs1329006958 0.00001
NM_018297.4(NGLY1):c.538C>G (p.Gln180Glu) rs749482225 0.00001
NM_018297.4(NGLY1):c.544G>A (p.Val182Met) rs981738620 0.00001
NM_018297.4(NGLY1):c.581C>T (p.Ala194Val) rs750077439 0.00001
NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu) rs760530009 0.00001
NM_018297.4(NGLY1):c.626A>G (p.Glu209Gly) rs1706725084 0.00001
NM_018297.4(NGLY1):c.646A>G (p.Lys216Glu) rs148972130 0.00001
NM_018297.4(NGLY1):c.728A>C (p.His243Pro) rs1553654596 0.00001
NM_018297.4(NGLY1):c.729C>G (p.His243Gln) rs371573253 0.00001
NM_018297.4(NGLY1):c.736A>T (p.Asn246Tyr) rs760786749 0.00001
NM_018297.4(NGLY1):c.773G>A (p.Arg258Lys) rs1252562045 0.00001
NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile) rs147901411 0.00001
NM_018297.4(NGLY1):c.815A>C (p.Lys272Thr) rs1553654532 0.00001
NM_018297.4(NGLY1):c.823G>A (p.Ala275Thr) rs752711308 0.00001
NM_018297.4(NGLY1):c.826A>G (p.Lys276Glu) rs1300275073 0.00001
NM_018297.4(NGLY1):c.854C>G (p.Ala285Gly) rs1354557048 0.00001
NM_018297.4(NGLY1):c.897G>T (p.Glu299Asp) rs201068823 0.00001
NM_018297.4(NGLY1):c.916T>C (p.Cys306Arg) rs376459511 0.00001
NM_018297.4(NGLY1):c.91G>A (p.Ala31Thr) rs771300867 0.00001
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294 0.00001
NM_018297.4(NGLY1):c.962G>A (p.Arg321Gln) rs751720023 0.00001
NM_018297.4(NGLY1):c.979G>A (p.Ala327Thr) rs765674070 0.00001
NM_018297.4(NGLY1):c.988G>A (p.Val330Ile) rs1291397698 0.00001
NC_000003.11:g.(?_25805537)_(25805822_?)del
NC_000003.11:g.(?_25820045)_(25824881_?)dup
NC_000003.12:g.(?_25719440)_(25734002_?)del
NM_018297.4(NGLY1):c.-17_12dup (p.Ala5fs) rs765492483
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs) rs762131179
NM_018297.4(NGLY1):c.1014G>C (p.Trp338Cys)
NM_018297.4(NGLY1):c.1030C>T (p.Pro344Ser) rs1705807075
NM_018297.4(NGLY1):c.1033_1035del (p.Ser345del) rs1705806467
NM_018297.4(NGLY1):c.1052A>G (p.His351Arg)
NM_018297.4(NGLY1):c.1084C>G (p.Pro362Ala) rs1705801576
NM_018297.4(NGLY1):c.1114A>G (p.Lys372Glu)
NM_018297.4(NGLY1):c.1120T>C (p.Ser374Pro) rs765144358
NM_018297.4(NGLY1):c.1122C>G (p.Ser374=) rs1705798915
NM_018297.4(NGLY1):c.1135T>A (p.Phe379Ile) rs2125475415
NM_018297.4(NGLY1):c.1171T>C (p.Tyr391His) rs1705687090
NM_018297.4(NGLY1):c.1174T>G (p.Ser392Ala) rs766571083
NM_018297.4(NGLY1):c.1175C>T (p.Ser392Phe) rs1705686797
NM_018297.4(NGLY1):c.1198G>A (p.Ala400Thr)
NM_018297.4(NGLY1):c.120C>G (p.Asp40Glu) rs1708504699
NM_018297.4(NGLY1):c.122A>G (p.Asn41Ser)
NM_018297.4(NGLY1):c.1235A>G (p.Asp412Gly) rs778513258
NM_018297.4(NGLY1):c.1237A>G (p.Thr413Ala)
NM_018297.4(NGLY1):c.1238C>T (p.Thr413Ile) rs1261124515
NM_018297.4(NGLY1):c.1244A>T (p.Asn415Ile)
NM_018297.4(NGLY1):c.1250_1258dup (p.Leu417_Lys419dup) rs1705681776
NM_018297.4(NGLY1):c.1260+6_1260+7delinsCG rs1705680555
NM_018297.4(NGLY1):c.1263G>T (p.Arg421Ser) rs1575614950
NM_018297.4(NGLY1):c.1300C>T (p.Leu434Phe) rs761035118
NM_018297.4(NGLY1):c.1309A>G (p.Ile437Val) rs2125466194
NM_018297.4(NGLY1):c.132-19A>G rs374594731
NM_018297.4(NGLY1):c.1345_1346delinsTA (p.Thr449Tyr) rs1705583019
NM_018297.4(NGLY1):c.1354C>T (p.Pro452Ser) rs772810347
NM_018297.4(NGLY1):c.1364T>A (p.Leu455His) rs754714582
NM_018297.4(NGLY1):c.1370G>C (p.Gly457Ala) rs2125465989
NM_018297.4(NGLY1):c.137C>A (p.Pro46His) rs920456609
NM_018297.4(NGLY1):c.1406G>A (p.Arg469Gln)
NM_018297.4(NGLY1):c.1414A>G (p.Met472Val) rs1705577127
NM_018297.4(NGLY1):c.1425+6del rs2125465821
NM_018297.4(NGLY1):c.1441T>G (p.Phe481Val) rs1020539053
NM_018297.4(NGLY1):c.1448C>T (p.Pro483Leu) rs763452939
NM_018297.4(NGLY1):c.1463A>G (p.Lys488Arg) rs761374303
NM_018297.4(NGLY1):c.1483C>A (p.Leu495Ile)
NM_018297.4(NGLY1):c.1490A>G (p.Tyr497Cys) rs2125459762
NM_018297.4(NGLY1):c.149A>C (p.Lys50Thr)
NM_018297.4(NGLY1):c.14C>A (p.Ala5Glu) rs779267801
NM_018297.4(NGLY1):c.1507C>G (p.Arg503Gly) rs745718089
NM_018297.4(NGLY1):c.151T>C (p.Tyr51His) rs1708261567
NM_018297.4(NGLY1):c.1552G>C (p.Glu518Gln)
NM_018297.4(NGLY1):c.1561G>A (p.Val521Met)
NM_018297.4(NGLY1):c.1567A>G (p.Lys523Glu) rs763560541
NM_018297.4(NGLY1):c.1611+3A>C
NM_018297.4(NGLY1):c.1615T>C (p.Tyr539His) rs2125443176
NM_018297.4(NGLY1):c.1625G>T (p.Arg542Leu) rs761945483
NM_018297.4(NGLY1):c.1629G>T (p.Lys543Asn) rs1306756725
NM_018297.4(NGLY1):c.1632A>T (p.Glu544Asp)
NM_018297.4(NGLY1):c.1660A>G (p.Lys554Glu) rs2125443059
NM_018297.4(NGLY1):c.1676C>T (p.Ser559Leu) rs1354238828
NM_018297.4(NGLY1):c.1681G>A (p.Gly561Ser) rs199719904
NM_018297.4(NGLY1):c.1682G>A (p.Gly561Asp)
NM_018297.4(NGLY1):c.1687A>G (p.Lys563Glu) rs1704908411
NM_018297.4(NGLY1):c.1696A>G (p.Ser566Gly)
NM_018297.4(NGLY1):c.1709G>C (p.Arg570Thr) rs1704906682
NM_018297.4(NGLY1):c.1714AGT[1] (p.Ser573del) rs763674545
NM_018297.4(NGLY1):c.1731G>C (p.Gln577His)
NM_018297.4(NGLY1):c.1732A>G (p.Thr578Ala) rs780662676
NM_018297.4(NGLY1):c.1736G>C (p.Gly579Ala) rs2125442877
NM_018297.4(NGLY1):c.173A>G (p.Asn58Ser)
NM_018297.4(NGLY1):c.1745A>G (p.Glu582Gly)
NM_018297.4(NGLY1):c.1756C>G (p.Arg586Gly) rs1383370693
NM_018297.4(NGLY1):c.1757G>A (p.Arg586Gln) rs376913179
NM_018297.4(NGLY1):c.1757G>T (p.Arg586Leu)
NM_018297.4(NGLY1):c.1765A>G (p.Thr589Ala)
NM_018297.4(NGLY1):c.176C>G (p.Thr59Arg)
NM_018297.4(NGLY1):c.1773A>G (p.Gln591=) rs1165637061
NM_018297.4(NGLY1):c.1790A>G (p.Asp597Gly) rs1353013215
NM_018297.4(NGLY1):c.1790A>T (p.Asp597Val)
NM_018297.4(NGLY1):c.1797T>A (p.Ser599Arg)
NM_018297.4(NGLY1):c.1805C>G (p.Ser602Cys) rs899798907
NM_018297.4(NGLY1):c.1808A>T (p.Tyr603Phe) rs777069327
NM_018297.4(NGLY1):c.1829C>T (p.Thr610Ile) rs1156427347
NM_018297.4(NGLY1):c.1833A>C (p.Glu611Asp) rs1704873404
NM_018297.4(NGLY1):c.1838T>C (p.Ile613Thr) rs2125441642
NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del) rs771630737
NM_018297.4(NGLY1):c.1894C>G (p.Leu632Val)
NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser) rs1553649841
NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr) rs529998714
NM_018297.4(NGLY1):c.1952_1953delinsAG (p.Phe651Ter) rs2125441274
NM_018297.4(NGLY1):c.199C>T (p.Pro67Ser) rs1355136163
NM_018297.4(NGLY1):c.200C>G (p.Pro67Arg)
NM_018297.4(NGLY1):c.205A>G (p.Arg69Gly) rs2125321653
NM_018297.4(NGLY1):c.206G>T (p.Arg69Ile)
NM_018297.4(NGLY1):c.215T>C (p.Val72Ala)
NM_018297.4(NGLY1):c.218A>G (p.Glu73Gly) rs1708258319
NM_018297.4(NGLY1):c.246+5G>A rs1708257371
NM_018297.4(NGLY1):c.26C>G (p.Ser9Cys) rs1708511856
NM_018297.4(NGLY1):c.2T>C (p.Met1Thr) rs1708515209
NM_018297.4(NGLY1):c.305G>T (p.Arg102Leu) rs750589736
NM_018297.4(NGLY1):c.319A>C (p.Ile107Leu) rs757774666
NM_018297.4(NGLY1):c.319A>G (p.Ile107Val) rs757774666
NM_018297.4(NGLY1):c.333C>A (p.Ser111Arg) rs2125289646
NM_018297.4(NGLY1):c.341A>C (p.Asp114Ala) rs2125289618
NM_018297.4(NGLY1):c.341A>T (p.Asp114Val) rs2125289618
NM_018297.4(NGLY1):c.362A>G (p.Lys121Arg) rs1707449367
NM_018297.4(NGLY1):c.364G>A (p.Val122Ile) rs1707449249
NM_018297.4(NGLY1):c.370T>G (p.Ser124Ala) rs1486033521
NM_018297.4(NGLY1):c.371C>T (p.Ser124Leu) rs1707448596
NM_018297.4(NGLY1):c.385G>A (p.Ala129Thr)
NM_018297.4(NGLY1):c.391A>G (p.Ser131Gly) rs2125289409
NM_018297.4(NGLY1):c.395C>T (p.Thr132Ile)
NM_018297.4(NGLY1):c.3GGC[5] (p.Ala5dup) rs753912717
NM_018297.4(NGLY1):c.403C>G (p.Pro135Ala) rs748043134
NM_018297.4(NGLY1):c.406A>G (p.Thr136Ala) rs1559551887
NM_018297.4(NGLY1):c.407C>G (p.Thr136Arg) rs2125289321
NM_018297.4(NGLY1):c.409A>C (p.Thr137Pro) rs372479316
NM_018297.4(NGLY1):c.419C>T (p.Ser140Leu) rs754379411
NM_018297.4(NGLY1):c.41C>A (p.Ser14Tyr) rs767547861
NM_018297.4(NGLY1):c.41C>T (p.Ser14Phe) rs767547861
NM_018297.4(NGLY1):c.424C>A (p.Pro142Thr) rs764719624
NM_018297.4(NGLY1):c.425C>T (p.Pro142Leu)
NM_018297.4(NGLY1):c.431G>A (p.Gly144Glu) rs1553660431
NM_018297.4(NGLY1):c.448A>G (p.Arg150Gly) rs1559551749
NM_018297.4(NGLY1):c.45G>A (p.Pro15=) rs2125331626
NM_018297.4(NGLY1):c.463C>A (p.Gln155Lys) rs1707440117
NM_018297.4(NGLY1):c.467C>T (p.Ser156Leu)
NM_018297.4(NGLY1):c.476C>T (p.Pro159Leu) rs1270766241
NM_018297.4(NGLY1):c.485C>G (p.Ala162Gly) rs746042656
NM_018297.4(NGLY1):c.485C>T (p.Ala162Val) rs746042656
NM_018297.4(NGLY1):c.492G>A (p.Thr164=) rs778126026
NM_018297.4(NGLY1):c.492G>C (p.Thr164=)
NM_018297.4(NGLY1):c.494T>G (p.Val165Gly) rs1706734836
NM_018297.4(NGLY1):c.539A>G (p.Gln180Arg) rs958601385
NM_018297.4(NGLY1):c.542A>G (p.His181Arg)
NM_018297.4(NGLY1):c.542A>T (p.His181Leu) rs369784943
NM_018297.4(NGLY1):c.548T>C (p.Leu183Pro) rs781700117
NM_018297.4(NGLY1):c.550G>A (p.Val184Ile) rs139636452
NM_018297.4(NGLY1):c.580G>A (p.Ala194Thr) rs757980826
NM_018297.4(NGLY1):c.586G>T (p.Ala196Ser) rs1706727828
NM_018297.4(NGLY1):c.587C>A (p.Ala196Asp)
NM_018297.4(NGLY1):c.599T>G (p.Val200Gly) rs2125512805
NM_018297.4(NGLY1):c.619T>C (p.Ser207Pro)
NM_018297.4(NGLY1):c.629A>C (p.Lys210Thr) rs1553657104
NM_018297.4(NGLY1):c.633A>T (p.Leu211Phe) rs1706724401
NM_018297.4(NGLY1):c.634T>C (p.Ser212Pro) rs879052893
NM_018297.4(NGLY1):c.658+5T>C rs1322075070
NM_018297.4(NGLY1):c.658+6A>G rs2125512565
NM_018297.4(NGLY1):c.659-6T>G rs1049813524
NM_018297.4(NGLY1):c.665A>G (p.Asn222Ser)
NM_018297.4(NGLY1):c.66G>C (p.Gln22His)
NM_018297.4(NGLY1):c.690G>T (p.Leu230Phe) rs2125485635
NM_018297.4(NGLY1):c.708G>T (p.Trp236Cys) rs1575622282
NM_018297.4(NGLY1):c.749G>A (p.Cys250Tyr) rs1440956965
NM_018297.4(NGLY1):c.761G>T (p.Gly254Val) rs748897361
NM_018297.4(NGLY1):c.773G>T (p.Arg258Met) rs1252562045
NM_018297.4(NGLY1):c.774G>T (p.Arg258Ser) rs1706027866
NM_018297.4(NGLY1):c.776C>G (p.Ser259Cys) rs1706027679
NM_018297.4(NGLY1):c.780A>T (p.Arg260Ser) rs2125485237
NM_018297.4(NGLY1):c.787T>C (p.Ser263Pro)
NM_018297.4(NGLY1):c.78G>C (p.Glu26Asp)
NM_018297.4(NGLY1):c.78G>T (p.Glu26Asp)
NM_018297.4(NGLY1):c.806A>T (p.Asp269Val)
NM_018297.4(NGLY1):c.807T>A (p.Asp269Glu)
NM_018297.4(NGLY1):c.821G>A (p.Gly274Asp) rs1706023881
NM_018297.4(NGLY1):c.877C>G (p.Pro293Ala) rs775963261
NM_018297.4(NGLY1):c.880A>G (p.Arg294Gly) rs1706019869
NM_018297.4(NGLY1):c.88G>A (p.Glu30Lys) rs1708506506
NM_018297.4(NGLY1):c.891C>A (p.Asn297Lys)
NM_018297.4(NGLY1):c.901C>G (p.Leu301Val) rs761507528
NM_018297.4(NGLY1):c.923G>A (p.Arg308Gln) rs746594019
NM_018297.4(NGLY1):c.925T>C (p.Cys309Arg)
NM_018297.4(NGLY1):c.967G>A (p.Val323Ile) rs1279950302

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