ClinVar Miner

List of variants in gene NAGLU reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 378
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HGVS dbSNP gnomAD frequency
NM_000263.3(NAGLU):c.-144G>A rs538885425 0.00263
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00190
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_000263.3(NAGLU):c.-167G>T rs145830042 0.00078
NM_000263.3(NAGLU):c.-212G>C rs538288877 0.00063
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665 0.00063
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) rs530062090 0.00056
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267 0.00048
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331 0.00040
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) rs146715254 0.00029
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566 0.00021
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564 0.00017
NM_000263.4(NAGLU):c.1880C>T (p.Ala627Val) rs140905880 0.00017
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) rs146456266 0.00017
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316 0.00016
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042 0.00016
NM_000263.4(NAGLU):c.678+4A>G rs368199655 0.00016
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028 0.00015
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp) rs200981229 0.00015
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192 0.00015
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842 0.00010
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr) rs369970264 0.00009
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr) rs202115696 0.00009
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr) rs930823153 0.00009
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn) rs145452809 0.00009
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) rs777479452 0.00009
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=) rs369789056 0.00008
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr) rs752264680 0.00007
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys) rs553293896 0.00006
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586 0.00006
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) rs747529593 0.00005
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn) rs375068243 0.00005
NM_000263.4(NAGLU):c.750C>T (p.Pro250=) rs539019626 0.00005
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817 0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln) rs144807822 0.00004
NM_000263.4(NAGLU):c.383+7C>T rs768602711 0.00004
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666 0.00004
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr) rs372165410 0.00003
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys) rs772901588 0.00003
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln) rs376545731 0.00003
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) rs774971794 0.00003
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386 0.00003
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528 0.00003
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) rs750625891 0.00003
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168 0.00002
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936 0.00002
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln) rs1207098238 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly) rs777283283 0.00002
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg) rs750276054 0.00002
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp) rs368907396 0.00002
NM_000263.3(NAGLU):c.-228C>G rs554915381 0.00001
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) rs768918822 0.00001
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile) rs1469114327 0.00001
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995 0.00001
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys) rs762372103 0.00001
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His) rs199850748 0.00001
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His) rs753409259 0.00001
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met) rs1237047553 0.00001
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro) rs1432587285 0.00001
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val) rs767179184 0.00001
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln) rs868244206 0.00001
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu) rs748902330 0.00001
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789 0.00001
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met) rs1300652650 0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe) rs764446533 0.00001
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821 0.00001
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu) rs1362489439 0.00001
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser) rs1049965915 0.00001
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu) rs1166458645 0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852 0.00001
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg) rs773277748 0.00001
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys) rs756138287 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly) rs777994015 0.00001
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn) rs1227171021 0.00001
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu) rs753670246 0.00001
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg) rs1197265081 0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) rs746006696 0.00001
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp) rs774918711 0.00001
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) rs540744217 0.00001
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr) rs146582131 0.00001
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His) rs754927686 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.2128C>G (p.Leu710Val) rs371348286 0.00001
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn) rs367726645 0.00001
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser) rs553153753 0.00001
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp) rs1455286651 0.00001
NM_000263.4(NAGLU):c.383+5C>G rs762932040 0.00001
NM_000263.4(NAGLU):c.384-10C>G rs772996063 0.00001
NM_000263.4(NAGLU):c.408C>T (p.Cys136=) rs750741772 0.00001
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser) rs762238741 0.00001
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln) rs1323850779 0.00001
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu) rs765009822 0.00001
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg) rs762576999 0.00001
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln) rs904118831 0.00001
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser) rs1347490896 0.00001
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val) rs1405289098 0.00001
NM_000263.4(NAGLU):c.753G>A (p.Glu251=) rs367604063 0.00001
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile) rs764452721 0.00001
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe) rs769713129 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln) rs200625281 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) rs118204025 0.00001
NC_000017.10:g.(?_40688291)_(40690793_?)dup
NM_000263.4(NAGLU):c.*174A>G rs896549130
NM_000263.4(NAGLU):c.*198del rs747726415
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile)
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys)
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala)
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val)
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser)
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) rs753454744
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr)
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1097T>A (p.Ile366Asn)
NM_000263.4(NAGLU):c.1101_1112dup (p.Val373_Pro374insLeuGlyAlaVal)
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala) rs2143107785
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu)
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys)
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe) rs2143107974
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val)
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro) rs2143108019
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) rs1599260473
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) rs1555622266
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys)
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro)
NM_000263.4(NAGLU):c.1181C>T (p.Thr394Ile)
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly) rs1599260536
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)
NM_000263.4(NAGLU):c.1190T>G (p.Phe397Cys)
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr)
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys)
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg)
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser)
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr) rs764815033
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys)
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile) rs886493431
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg) rs2143109259
NM_000263.4(NAGLU):c.1322C>G (p.Thr441Arg) rs138695961
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr)
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile) rs1370763282
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu)
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) rs375103824
NM_000263.4(NAGLU):c.1376C>T (p.Ala459Val) rs2143109756
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln)
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro)
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn) rs1555622346
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala) rs894998392
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val)
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val)
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu) rs1332288767
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln) rs965655357
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu)
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr)
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys)
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met)
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser) rs2143110806
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro) rs2092927686
NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro)
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln)
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys) rs781603010
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser)
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser) rs770129454
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser)
NM_000263.4(NAGLU):c.1540C>G (p.Arg514Gly)
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys)
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly)
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser) rs1599261339
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys)
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val)
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln)
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe) rs2092928280
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln)
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln)
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr)
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=)
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile)
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr)
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val)
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His)
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser) rs2092928703
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp) rs2092928775
NM_000263.4(NAGLU):c.1712T>C (p.Leu571Pro)
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly)
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr)
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del)
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr) rs144238669
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys) rs1274337932
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val) rs886052952
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile) rs759978970
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu) rs759978970
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met)
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln)
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met)
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) rs1555622482
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro) rs2143114107
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val)
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr)
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val)
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile)
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe) rs764322586
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly)
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr)
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu)
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu)
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys) rs2143114630
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys)
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln)
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr)
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys)
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp) rs2143114887
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile)
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro) rs2092930000
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His) rs1599262171
NM_000263.4(NAGLU):c.1980C>A (p.Asn660Lys) rs981984204
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile) rs1358789110
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu) rs1341421909
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu) rs2143115795
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly)
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) rs1567894363
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg)
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly) rs2143115890
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr)
NM_000263.4(NAGLU):c.2054G>T (p.Ser685Ile)
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr)
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val)
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe) rs143906118
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu) rs2092930476
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln) rs1038367205
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn) rs897126193
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser)
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.2123_2205del (p.Phe708fs)
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu) rs139195906
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile)
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly) rs1482294617
NM_000263.4(NAGLU):c.2132G>A (p.Ser711Asn) rs2092930722
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs)
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His)
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser) rs2092930793
NM_000263.4(NAGLU):c.2150G>C (p.Ser717Thr) rs1014037051
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) rs1555622589
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu) rs760180817
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys) rs2143116999
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter) rs2092930997
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter)
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu)
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys) rs86312
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His)
NM_000263.4(NAGLU):c.2214G>A (p.Trp738Ter)
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met)
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr)
NM_000263.4(NAGLU):c.2225C>G (p.Ser742Cys)
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) rs749371796
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr) rs2143077245
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser) rs1181544224
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)
NM_000263.4(NAGLU):c.326G>A (p.Arg109His) rs1224387286
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu) rs1567890347
NM_000263.4(NAGLU):c.348C>A (p.Ala116=)
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg) rs1240470839
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) rs796052123
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del) rs1555621469
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)
NM_000263.4(NAGLU):c.379A>C (p.Asn127His) rs2143077833
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser)
NM_000263.4(NAGLU):c.383+3A>G
NM_000263.4(NAGLU):c.383+5C>A rs762932040
NM_000263.4(NAGLU):c.383+5C>T
NM_000263.4(NAGLU):c.383+6G>T
NM_000263.4(NAGLU):c.384-3C>A rs1216280532
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys) rs762337946
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met)
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) rs1555621579
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val) rs2143082071
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro)
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp)
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu) rs141018386
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu) rs1238423614
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser)
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met) rs2143082294
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg) rs2092910000
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser) rs398123281
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del) rs1555621605
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys)
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg)
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser)
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe)
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg) rs1056643237
NM_000263.4(NAGLU):c.610A>G (p.Met204Val) rs2143086735
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile)
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala)
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser) rs1291552393
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val)
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile) rs2143086833
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser)
NM_000263.4(NAGLU):c.647C>A (p.Pro216His)
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro) rs146456266
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del) rs2143087937
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro) rs2143088010
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser)
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser)
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu)
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu)
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro)
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu)
NM_000263.4(NAGLU):c.736G>C (p.Ala246Pro) rs1415169705
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu)
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile) rs2092914005
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile)
NM_000263.4(NAGLU):c.763A>C (p.Arg255=)
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp)
NM_000263.4(NAGLU):c.764+5G>A
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr) rs2143088503
NM_000263.4(NAGLU):c.765-782A>G
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser)
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser)
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala) rs2143097981
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr)
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys) rs1025860195
NM_000263.4(NAGLU):c.830_832del (p.Cys277del) rs398123282
NM_000263.4(NAGLU):c.849G>A (p.Pro283=)
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val)
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu)
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val) rs2143098654
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn)
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys)
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met)
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys) rs2143099484
NM_000263.4(NAGLU):c.949A>G (p.Met317Val)
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile)
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile)
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu)
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe)
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu)
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe)
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr)
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala)

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