ClinVar Miner

List of variants in gene NAGLU reported as uncertain significance by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 284
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1495C>T (p.Arg499Trp) rs200981229 0.00015
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys) rs1272515676 0.00010
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn) rs367726645 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.788C>T (p.Thr263Met) rs777479452 0.00009
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln) rs377282648 0.00007
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr) rs752264680 0.00007
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln) rs376300258 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.2125G>A (p.Val709Ile) rs781410675 0.00005
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr) rs371351618 0.00005
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817 0.00004
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly) rs369131160 0.00004
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln) rs144807822 0.00004
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro) rs1449437603 0.00004
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666 0.00004
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528 0.00004
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys) rs534847909 0.00003
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr) rs372165410 0.00003
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys) rs759041924 0.00003
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val) rs767179184 0.00003
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His) rs771560656 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.383+3A>G rs973544618 0.00003
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386 0.00003
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile) rs374904049 0.00003
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) rs750625891 0.00003
NM_000263.4(NAGLU):c.849G>A (p.Pro283=) rs201374620 0.00003
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168 0.00002
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser) rs757325483 0.00002
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln) rs1207098238 0.00002
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly) rs777283283 0.00002
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val) rs535336259 0.00002
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser) rs542076832 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_000263.4(NAGLU):c.782A>G (p.Asn261Ser) rs771770163 0.00002
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala) rs1396937813 0.00002
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile) rs1469114327 0.00001
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala) rs376582504 0.00001
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr) rs1459252305 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.1192C>A (p.Gln398Lys) rs553293896 0.00001
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met) rs1237047553 0.00001
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg) rs922118065 0.00001
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys) rs1049139446 0.00001
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu) rs1213961819 0.00001
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala) rs894998392 0.00001
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val) rs777931564 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.1484G>T (p.Arg495Met) rs1167097629 0.00001
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln) rs368183484 0.00001
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met) rs1300652650 0.00001
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser) rs200465065 0.00001
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys) rs747653638 0.00001
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe) rs764446533 0.00001
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe) rs2092928280 0.00001
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821 0.00001
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr) rs746486630 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.1663G>A (p.Ala555Thr) rs745703132 0.00001
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His) rs774472259 0.00001
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr) rs144238669 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.1822G>C (p.Glu608Gln) rs756138287 0.00001
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met) rs1304820983 0.00001
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly) rs777994015 0.00001
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile) rs764322586 0.00001
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly) rs751264692 0.00001
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn) rs1227171021 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.2059G>A (p.Ala687Thr) rs1422268859 0.00001
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val) rs143906118 0.00001
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr) rs146582131 0.00001
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser) rs1567894405 0.00001
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His) rs754927686 0.00001
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu) rs776069611 0.00001
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His) rs373898536 0.00001
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met) rs1488990082 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.2229G>A (p.Trp743Ter) rs749371796 0.00001
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu) rs2092907140 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.410C>T (p.Thr137Met) rs534663244 0.00001
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) rs1555621579 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.643C>T (p.Pro215Ser) rs1232044690 0.00001
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser) rs1347490896 0.00001
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu) rs1221009492 0.00001
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu) rs2092913856 0.00001
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu) rs1405289098 0.00001
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val) rs1405289098 0.00001
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile) rs764452721 0.00001
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile) rs751812997 0.00001
NM_000263.4(NAGLU):c.764+5G>A rs2092914089 0.00001
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe) rs769713129 0.00001
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln) rs200625281 0.00001
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu) rs2092920790 0.00001
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr) rs765774149 0.00001
NC_000017.10:g.(?_40688291)_(40690793_?)dup
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile) rs1196007331
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys) rs2510658609
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val) rs1417836116
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser) rs2510658718
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala) rs2143107785
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu) rs2510658889
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe) rs2143107974
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val) rs2510658997
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro) rs2143108019
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro) rs753409259
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly) rs1599260536
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val) rs2510659111
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro) rs2510659133
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr) rs574688121
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr) rs1360051608
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys) rs200715586
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser) rs776375237
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.1318G>C (p.Gly440Arg) rs2143109259
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr) rs1299459381
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile) rs1370763282
NM_000263.4(NAGLU):c.1331C>G (p.Ala444Gly)
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro) rs377282648
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val) rs1599260989
NM_000263.4(NAGLU):c.1429A>C (p.Ser477Arg)
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) rs771970841
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr) rs2092927569
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys) rs1167097629
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.1509C>A (p.Asn503Lys) rs781603010
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser) rs1187121246
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser) rs770129454
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly) rs2510659794
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys) rs1218110405
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val) rs1042714332
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln) rs767597884
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln) rs2510659918
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=) rs771056028
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile) rs370718304
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val) rs2510660080
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.1735G>A (p.Ala579Thr) rs2510660224
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del) rs2510660229
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys) rs1274337932
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) rs2510660386
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met) rs1198292626
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro) rs2143114107
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val) rs2510660483
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr) rs2510660514
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe) rs764322586
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr) rs1449616485
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu) rs2510660618
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu) rs1449526218
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys) rs2143114630
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys) rs555145190
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln) rs555145190
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr) rs2510660677
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys) rs1385391783
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp) rs2143114887
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile) rs1233556369
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro) rs2092930000
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) rs540744217
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg) rs2143115890
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr) rs2092930357
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.2124C>G (p.Phe708Leu) rs139195906
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly) rs1482294617
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs) rs2510661067
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His) rs2510661069
NM_000263.4(NAGLU):c.2140A>G (p.Arg714Gly)
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) rs1310530729
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys) rs86312
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr) rs750668298
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr) rs2510650485
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) rs2510650506
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe) rs2092906880
NM_000263.4(NAGLU):c.326G>A (p.Arg109His) rs1224387286
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu) rs1224387286
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu) rs1567890347
NM_000263.4(NAGLU):c.345_347del (p.Ala116del)
NM_000263.4(NAGLU):c.348C>A (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu) rs1009074785
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly) rs2092907090
NM_000263.4(NAGLU):c.379A>C (p.Asn127His) rs2143077833
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser) rs2092907145
NM_000263.4(NAGLU):c.383+5C>A rs762932040
NM_000263.4(NAGLU):c.383+5C>T rs762932040
NM_000263.4(NAGLU):c.383+6G>T rs1245100428
NM_000263.4(NAGLU):c.384-3C>A rs1216280532
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys) rs762337946
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val) rs2143082071
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro) rs1489785243
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu) rs1489785243
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp) rs1042897382
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu) rs141018386
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.526C>A (p.Gln176Lys) rs2510652265
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg) rs1245652816
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser) rs2510653154
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe) rs2510653158
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.614G>C (p.Gly205Ala) rs2510653253
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser) rs1291552393
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val) rs1052395549
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile) rs2143086833
NM_000263.4(NAGLU):c.647C>A (p.Pro216His) rs750276054
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) rs2510653825
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser) rs2510653858
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro) rs2510653875
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu) rs2510653895
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile) rs2092914005
NM_000263.4(NAGLU):c.755C>T (p.Ala252Val)
NM_000263.4(NAGLU):c.763A>C (p.Arg255=) rs2510653962
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp) rs2510653962
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr) rs2143088503
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser) rs1160168612
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala) rs2143097981
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr) rs2510656357
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.854A>T (p.Asp285Val) rs1438953428
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu) rs2510656429
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val) rs2143098654
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn) rs2510656461
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys) rs2510656472
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met) rs1328217490
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys) rs2143099484
NM_000263.4(NAGLU):c.949A>G (p.Met317Val) rs2510656598
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile) rs2510656601
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile) rs2510656601
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe) rs2092920803
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu) rs2510656635
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe) rs776750536

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.