ClinVar Miner

List of variants in gene NAGLU reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 470
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HGVS dbSNP gnomAD frequency
NM_000263.3(NAGLU):c.-138A>G rs76407245 0.06051
NM_000263.4(NAGLU):c.531+157G>A rs147296829 0.01491
NM_000263.4(NAGLU):c.384-284A>C rs79217463 0.01433
NC_000017.11:g.42535722G>T rs115776379 0.01371
NM_000263.3(NAGLU):c.-200G>C rs114904267 0.01366
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
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_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439 0.00077
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.764+10C>T rs372400832 0.00026
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.1617C>T (p.Ala539=) rs149875730 0.00019
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564 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.288C>T (p.Phe96=) rs755082293 0.00015
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192 0.00015
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=) rs139195906 0.00014
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) rs866267579 0.00012
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842 0.00010
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=) rs138324133 0.00009
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn) rs145452809 0.00009
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=) rs369789056 0.00008
NM_000263.4(NAGLU):c.873C>T (p.Ile291=) rs146734024 0.00008
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=) rs760335984 0.00007
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586 0.00006
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=) rs202033889 0.00006
NM_000263.4(NAGLU):c.627C>G (p.Thr209=) rs200496310 0.00006
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=) rs758270880 0.00005
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=) rs143580194 0.00005
NM_000263.4(NAGLU):c.750C>T (p.Pro250=) rs539019626 0.00005
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=) rs756871462 0.00004
NM_000263.4(NAGLU):c.1068C>T (p.His356=) rs753745933 0.00004
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=) rs763394060 0.00004
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083 0.00004
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=) rs756351696 0.00004
NM_000263.4(NAGLU):c.383+7C>T rs768602711 0.00004
NM_000263.4(NAGLU):c.542C>A (p.Ala181Asp) rs149859697 0.00004
NM_000263.4(NAGLU):c.648C>G (p.Pro216=) rs755855749 0.00004
NM_000263.4(NAGLU):c.1021+8G>T rs749198686 0.00003
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=) rs766094935 0.00003
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=) rs376593763 0.00003
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621 0.00003
NM_000263.4(NAGLU):c.1674C>T (p.Tyr558=) rs762031686 0.00003
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) rs774971794 0.00003
NM_000263.4(NAGLU):c.2218G>C (p.Ala740Pro) rs750668298 0.00003
NM_000263.4(NAGLU):c.531+10C>T rs373999016 0.00003
NM_000263.4(NAGLU):c.741G>C (p.Gly247=) rs760463334 0.00003
NM_000263.4(NAGLU):c.813T>C (p.Phe271=) rs776459470 0.00003
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528 0.00003
NM_000263.4(NAGLU):c.984C>T (p.Ala328=) rs759609134 0.00003
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=) rs1412833749 0.00002
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=) rs1447090076 0.00002
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936 0.00002
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=) rs752971320 0.00002
NM_000263.4(NAGLU):c.1638T>C (p.Ser546=) rs901311027 0.00002
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) rs750401625 0.00002
NM_000263.4(NAGLU):c.2004C>T (p.Ala668=) rs1306672947 0.00002
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=) rs750078603 0.00002
NM_000263.4(NAGLU):c.2196C>T (p.Leu732=) rs766039758 0.00002
NM_000263.4(NAGLU):c.417C>T (p.Ser139=) rs766199293 0.00002
NM_000263.4(NAGLU):c.729T>G (p.Pro243=) rs941869157 0.00002
NM_000263.4(NAGLU):c.732A>G (p.Ala244=) rs200729468 0.00002
NM_000263.4(NAGLU):c.764+11G>A rs756517376 0.00002
NM_000263.4(NAGLU):c.777G>A (p.Gln259=) rs779208941 0.00002
NM_000263.4(NAGLU):c.1022-10C>T rs1314987679 0.00001
NM_000263.4(NAGLU):c.1022-4A>G rs748016637 0.00001
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=) rs771833491 0.00001
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995 0.00001
NM_000263.4(NAGLU):c.1089C>G (p.Pro363=) rs778956418 0.00001
NM_000263.4(NAGLU):c.1107G>T (p.Val369=) rs1479965895 0.00001
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=) rs1469438575 0.00001
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His) rs768600049 0.00001
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=) rs752682040 0.00001
NM_000263.4(NAGLU):c.1224C>T (p.His408=) rs780376108 0.00001
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=) rs775035658 0.00001
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=) rs757069066 0.00001
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453 0.00001
NM_000263.4(NAGLU):c.1368C>T (p.Ser456=) rs762502127 0.00001
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=) rs752918057 0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=) rs1318650686 0.00001
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=) rs1439979743 0.00001
NM_000263.4(NAGLU):c.1671C>A (p.Arg557=) rs1287450896 0.00001
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=) rs1179779613 0.00001
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=) rs1410332176 0.00001
NM_000263.4(NAGLU):c.1746C>T (p.Ala582=) rs1368697056 0.00001
NM_000263.4(NAGLU):c.1771C>T (p.Leu591=) rs749025581 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=) rs748402226 0.00001
NM_000263.4(NAGLU):c.1996T>C (p.Leu666=) rs1397893429 0.00001
NM_000263.4(NAGLU):c.2013C>T (p.Tyr671=) rs934112717 0.00001
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=) rs1438567691 0.00001
NM_000263.4(NAGLU):c.351G>T (p.Val117=) rs1436378685 0.00001
NM_000263.4(NAGLU):c.384-16A>T rs768251683 0.00001
NM_000263.4(NAGLU):c.384-8G>A rs746106558 0.00001
NM_000263.4(NAGLU):c.387C>T (p.Tyr129=) rs1453761645 0.00001
NM_000263.4(NAGLU):c.408C>T (p.Cys136=) rs750741772 0.00001
NM_000263.4(NAGLU):c.411G>A (p.Thr137=) rs1464521532 0.00001
NM_000263.4(NAGLU):c.459G>A (p.Glu153=) rs746876753 0.00001
NM_000263.4(NAGLU):c.645C>T (p.Pro215=) rs2092912974 0.00001
NM_000263.4(NAGLU):c.679-15C>T rs376430265 0.00001
NM_000263.4(NAGLU):c.708C>T (p.Phe236=) rs770221835 0.00001
NM_000263.4(NAGLU):c.720A>T (p.Pro240=) rs892493572 0.00001
NM_000263.4(NAGLU):c.735C>T (p.Phe245=) rs539646032 0.00001
NM_000263.4(NAGLU):c.753G>A (p.Glu251=) rs367604063 0.00001
NM_000263.4(NAGLU):c.764+12C>G rs1002650158 0.00001
NM_000263.4(NAGLU):c.764+15A>G rs1419186153 0.00001
NM_000263.4(NAGLU):c.783T>C (p.Asn261=) rs1275689779 0.00001
NM_000263.4(NAGLU):c.817T>C (p.Cys273Arg) rs759511446 0.00001
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480 0.00001
NM_000263.4(NAGLU):c.894G>A (p.Glu298=) rs746626709 0.00001
NM_000263.4(NAGLU):c.909T>C (p.Phe303=) rs140386564 0.00001
NM_000263.4(NAGLU):c.999C>T (p.Ala333=) rs959173039 0.00001
NM_000263.4(NAGLU):c.*8G>A
NM_000263.4(NAGLU):c.1017T>C (p.Thr339=) rs2143100146
NM_000263.4(NAGLU):c.1021+11T>A
NM_000263.4(NAGLU):c.1021+13G>C
NM_000263.4(NAGLU):c.1021+15T>G rs149434978
NM_000263.4(NAGLU):c.1021+16G>A
NM_000263.4(NAGLU):c.1021+9C>T
NM_000263.4(NAGLU):c.1022-10C>G
NM_000263.4(NAGLU):c.1022-14C>T
NM_000263.4(NAGLU):c.1022-17C>G
NM_000263.4(NAGLU):c.1022-18C>A
NM_000263.4(NAGLU):c.1022-20C>T rs1294766961
NM_000263.4(NAGLU):c.1022-8G>A rs2092925422
NM_000263.4(NAGLU):c.1023G>T (p.Val341=) rs1267291000
NM_000263.4(NAGLU):c.1044G>A (p.Leu348=)
NM_000263.4(NAGLU):c.1044G>T (p.Leu348=) rs776863513
NM_000263.4(NAGLU):c.1047C>A (p.Leu349=) rs2143107360
NM_000263.4(NAGLU):c.1050A>G (p.Gln350=)
NM_000263.4(NAGLU):c.1086G>C (p.Gly362=)
NM_000263.4(NAGLU):c.1086G>T (p.Gly362=)
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=) rs778956418
NM_000263.4(NAGLU):c.1095G>A (p.Gln365=)
NM_000263.4(NAGLU):c.1110G>A (p.Leu370=) rs2143107804
NM_000263.4(NAGLU):c.1116T>C (p.Ala372=)
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=)
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=)
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=)
NM_000263.4(NAGLU):c.1140T>A (p.Val380=)
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=) rs2143108047
NM_000263.4(NAGLU):c.1179C>T (p.Arg393=)
NM_000263.4(NAGLU):c.1188C>T (p.Ser396=) rs2143108378
NM_000263.4(NAGLU):c.1203C>G (p.Pro401=)
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=)
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=)
NM_000263.4(NAGLU):c.1254A>T (p.Gly418=)
NM_000263.4(NAGLU):c.1257C>T (p.Ala419=) rs2143108736
NM_000263.4(NAGLU):c.1263G>A (p.Glu421=)
NM_000263.4(NAGLU):c.1269G>A (p.Val423=) rs2143108842
NM_000263.4(NAGLU):c.1287T>G (p.Ala429=) rs2143108984
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=) rs2143109038
NM_000263.4(NAGLU):c.1293C>T (p.Arg431=)
NM_000263.4(NAGLU):c.1296C>T (p.Leu432=)
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=) rs2143109090
NM_000263.4(NAGLU):c.1302C>G (p.Pro434=)
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=) rs1049139446
NM_000263.4(NAGLU):c.1311C>G (p.Thr437=)
NM_000263.4(NAGLU):c.1311C>T (p.Thr437=) rs2092926617
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=) rs751479777
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=) rs2143109423
NM_000263.4(NAGLU):c.1335C>G (p.Pro445=)
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=) rs2092926773
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=) rs2143109514
NM_000263.4(NAGLU):c.1359G>A (p.Val453=)
NM_000263.4(NAGLU):c.1359G>T (p.Val453=)
NM_000263.4(NAGLU):c.1371C>T (p.Leu457=) rs1599260897
NM_000263.4(NAGLU):c.1380G>A (p.Glu460=)
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=) rs1238922003
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=) rs1567893530
NM_000263.4(NAGLU):c.1431C>T (p.Ser477=)
NM_000263.4(NAGLU):c.1437C>A (p.Ala479=) rs752918057
NM_000263.4(NAGLU):c.1443G>A (p.Arg481=)
NM_000263.4(NAGLU):c.1444C>A (p.Arg482=)
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=)
NM_000263.4(NAGLU):c.1488A>C (p.Leu496=)
NM_000263.4(NAGLU):c.1489C>T (p.Leu497=) rs1353058781
NM_000263.4(NAGLU):c.1491G>C (p.Leu497=)
NM_000263.4(NAGLU):c.1497G>A (p.Arg499=)
NM_000263.4(NAGLU):c.1500T>C (p.Ser500=) rs1225039564
NM_000263.4(NAGLU):c.1506C>T (p.Tyr502=)
NM_000263.4(NAGLU):c.1509C>T (p.Asn503=)
NM_000263.4(NAGLU):c.1512C>T (p.Cys504=) rs750897125
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=)
NM_000263.4(NAGLU):c.1533C>T (p.Gly511=) rs768357311
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=) rs2143111531
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=) rs2143111572
NM_000263.4(NAGLU):c.1549C>T (p.Leu517=)
NM_000263.4(NAGLU):c.1566C>A (p.Ser522=)
NM_000263.4(NAGLU):c.1569A>G (p.Leu523=)
NM_000263.4(NAGLU):c.1572G>A (p.Gln524=)
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=) rs780527821
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.1623G>T (p.Arg541=)
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=) rs2143112148
NM_000263.4(NAGLU):c.1626G>A (p.Leu542=)
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=) rs2143112209
NM_000263.4(NAGLU):c.1632C>T (p.Leu544=)
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=) rs2143112304
NM_000263.4(NAGLU):c.1644C>T (p.Pro548=)
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=) rs2143112410
NM_000263.4(NAGLU):c.1665C>A (p.Ala555=)
NM_000263.4(NAGLU):c.1665C>T (p.Ala555=)
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) rs760741593
NM_000263.4(NAGLU):c.1680G>C (p.Leu560=) rs766911974
NM_000263.4(NAGLU):c.1683G>A (p.Leu561=)
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=) rs2143112704
NM_000263.4(NAGLU):c.1692T>C (p.Thr564=)
NM_000263.4(NAGLU):c.1695G>T (p.Arg565=)
NM_000263.4(NAGLU):c.1698G>A (p.Gln566=)
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=) rs535354102
NM_000263.4(NAGLU):c.1704G>A (p.Val568=)
NM_000263.4(NAGLU):c.1707G>A (p.Gln569=)
NM_000263.4(NAGLU):c.1711C>T (p.Leu571=)
NM_000263.4(NAGLU):c.1719C>T (p.Ser573=)
NM_000263.4(NAGLU):c.1725C>T (p.Tyr575=)
NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=)
NM_000263.4(NAGLU):c.1764G>A (p.Leu588=)
NM_000263.4(NAGLU):c.1766C>T (p.Ala589Val)
NM_000263.4(NAGLU):c.1767C>A (p.Ala589=)
NM_000263.4(NAGLU):c.1767C>T (p.Ala589=) rs2143113512
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=) rs2143113520
NM_000263.4(NAGLU):c.1779G>A (p.Arg593=) rs2143113596
NM_000263.4(NAGLU):c.1782T>A (p.Ala594=)
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=) rs753170828
NM_000263.4(NAGLU):c.1797C>T (p.Ala599=) rs146715254
NM_000263.4(NAGLU):c.1803G>A (p.Glu601=)
NM_000263.4(NAGLU):c.1806G>A (p.Leu602=) rs2143113802
NM_000263.4(NAGLU):c.1812G>A (p.Pro604=)
NM_000263.4(NAGLU):c.1812G>C (p.Pro604=)
NM_000263.4(NAGLU):c.1815A>G (p.Ala605=)
NM_000263.4(NAGLU):c.1824G>A (p.Glu608=)
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=) rs1198292626
NM_000263.4(NAGLU):c.1833T>G (p.Ala611=)
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=)
NM_000263.4(NAGLU):c.1852C>T (p.Leu618=)
NM_000263.4(NAGLU):c.1857C>T (p.Gly619=)
NM_000263.4(NAGLU):c.1869G>A (p.Glu623=)
NM_000263.4(NAGLU):c.1881A>G (p.Ala627=) rs2143114281
NM_000263.4(NAGLU):c.1890C>G (p.Val630=) rs1281727710
NM_000263.4(NAGLU):c.1890C>T (p.Val630=) rs1281727710
NM_000263.4(NAGLU):c.1892G>T (p.Ser631Ile) rs1227171021
NM_000263.4(NAGLU):c.1896G>A (p.Glu632=) rs2143114448
NM_000263.4(NAGLU):c.1929C>A (p.Arg643=)
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=)
NM_000263.4(NAGLU):c.1941C>A (p.Thr647=) rs1599262123
NM_000263.4(NAGLU):c.1942T>C (p.Leu648=)
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=) rs2092929943
NM_000263.4(NAGLU):c.1959C>T (p.Gly653=)
NM_000263.4(NAGLU):c.1965C>A (p.Ile655=) rs1482682282
NM_000263.4(NAGLU):c.1966C>T (p.Leu656=)
NM_000263.4(NAGLU):c.1977C>T (p.Ala659=)
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=) rs981984204
NM_000263.4(NAGLU):c.1987C>T (p.Leu663=)
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=)
NM_000263.4(NAGLU):c.2001G>A (p.Val667=)
NM_000263.4(NAGLU):c.2004C>A (p.Ala668=)
NM_000263.4(NAGLU):c.2010C>T (p.Tyr670=)
NM_000263.4(NAGLU):c.2022C>T (p.Arg674=) rs2143115704
NM_000263.4(NAGLU):c.2043G>T (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2044C>T (p.Leu682=)
NM_000263.4(NAGLU):c.2046G>A (p.Leu682=)
NM_000263.4(NAGLU):c.2061C>T (p.Ala687=)
NM_000263.4(NAGLU):c.2067C>T (p.Gly689=)
NM_000263.4(NAGLU):c.2070C>T (p.Ile690=)
NM_000263.4(NAGLU):c.2076C>T (p.Phe692=)
NM_000263.4(NAGLU):c.2085C>T (p.His695=)
NM_000263.4(NAGLU):c.2103C>T (p.Val701=) rs2092930566
NM_000263.4(NAGLU):c.2106C>T (p.Phe702=) rs2092930575
NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=)
NM_000263.4(NAGLU):c.2154G>A (p.Gln718=)
NM_000263.4(NAGLU):c.2157G>T (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.2169T>C (p.Thr723=) rs2143116773
NM_000263.4(NAGLU):c.2205C>T (p.Tyr735=)
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly) rs2092931038
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=)
NM_000263.4(NAGLU):c.282C>G (p.Arg94=) rs866267579
NM_000263.4(NAGLU):c.294C>T (p.Gly98=) rs1318421483
NM_000263.4(NAGLU):c.306C>G (p.Ala102=)
NM_000263.4(NAGLU):c.306C>T (p.Ala102=)
NM_000263.4(NAGLU):c.312C>T (p.Ser104=)
NM_000263.4(NAGLU):c.315C>G (p.Gly105=) rs2143077290
NM_000263.4(NAGLU):c.318T>G (p.Ser106=)
NM_000263.4(NAGLU):c.321G>A (p.Gln107=) rs779437712
NM_000263.4(NAGLU):c.322C>T (p.Leu108=)
NM_000263.4(NAGLU):c.327C>A (p.Arg109=)
NM_000263.4(NAGLU):c.327C>T (p.Arg109=) rs2143077380
NM_000263.4(NAGLU):c.339A>T (p.Pro113=) rs2143077498
NM_000263.4(NAGLU):c.340C>T (p.Leu114=) rs2143077515
NM_000263.4(NAGLU):c.342G>A (p.Leu114=) rs748632325
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.345A>G (p.Pro115=) rs2092906994
NM_000263.4(NAGLU):c.348C>G (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.351G>A (p.Val117=)
NM_000263.4(NAGLU):c.354G>A (p.Pro118=)
NM_000263.4(NAGLU):c.354G>C (p.Pro118=) rs745433070
NM_000263.4(NAGLU):c.354G>T (p.Pro118=)
NM_000263.4(NAGLU):c.366C>A (p.Thr122=) rs769313280
NM_000263.4(NAGLU):c.366C>G (p.Thr122=) rs769313280
NM_000263.4(NAGLU):c.381C>T (p.Asn127=) rs965226394
NM_000263.4(NAGLU):c.383+10C>G rs1599254060
NM_000263.4(NAGLU):c.383+10C>T rs1599254060
NM_000263.4(NAGLU):c.383+11G>A rs2143078004
NM_000263.4(NAGLU):c.383+13A>G
NM_000263.4(NAGLU):c.383+14G>A
NM_000263.4(NAGLU):c.383+15C>T
NM_000263.4(NAGLU):c.383+16T>A
NM_000263.4(NAGLU):c.383+17T>A
NM_000263.4(NAGLU):c.383+17del
NM_000263.4(NAGLU):c.383+20C>A rs1168068741
NM_000263.4(NAGLU):c.383+7C>G
NM_000263.4(NAGLU):c.383+8C>G
NM_000263.4(NAGLU):c.384-10C>T rs772996063
NM_000263.4(NAGLU):c.384-11A>G
NM_000263.4(NAGLU):c.384-12C>A
NM_000263.4(NAGLU):c.384-12C>T
NM_000263.4(NAGLU):c.384-15T>A
NM_000263.4(NAGLU):c.384-18T>C
NM_000263.4(NAGLU):c.384-19C>T
NM_000263.4(NAGLU):c.384-32_384-20dup
NM_000263.4(NAGLU):c.384-4G>A rs763057510
NM_000263.4(NAGLU):c.384-4G>T
NM_000263.4(NAGLU):c.384-5C>T rs770061369
NM_000263.4(NAGLU):c.384-8G>T rs746106558
NM_000263.4(NAGLU):c.384-9T>C
NM_000263.4(NAGLU):c.390C>G (p.Arg130=)
NM_000263.4(NAGLU):c.402T>C (p.Asn134=)
NM_000263.4(NAGLU):c.444C>T (p.Ala148=)
NM_000263.4(NAGLU):c.465C>T (p.Asp155=)
NM_000263.4(NAGLU):c.474G>A (p.Ala158=)
NM_000263.4(NAGLU):c.474G>T (p.Ala158=) rs1052714676
NM_000263.4(NAGLU):c.483C>T (p.Gly161=)
NM_000263.4(NAGLU):c.489C>T (p.Asn163=) rs2143082353
NM_000263.4(NAGLU):c.490C>T (p.Leu164=)
NM_000263.4(NAGLU):c.496C>T (p.Leu166=)
NM_000263.4(NAGLU):c.498G>T (p.Leu166=)
NM_000263.4(NAGLU):c.507C>T (p.Ser169=)
NM_000263.4(NAGLU):c.516G>A (p.Glu172=)
NM_000263.4(NAGLU):c.519C>T (p.Ala173=)
NM_000263.4(NAGLU):c.531+10C>G
NM_000263.4(NAGLU):c.531+12C>T rs989825472
NM_000263.4(NAGLU):c.531+15T>C
NM_000263.4(NAGLU):c.531+16C>G
NM_000263.4(NAGLU):c.531+17C>T
NM_000263.4(NAGLU):c.531+46_531+75del rs1555621618
NM_000263.4(NAGLU):c.531+8C>T
NM_000263.4(NAGLU):c.531+9C>G rs2143082621
NM_000263.4(NAGLU):c.532-11T>C rs977518446
NM_000263.4(NAGLU):c.532-11T>G
NM_000263.4(NAGLU):c.532-14C>T
NM_000263.4(NAGLU):c.532-18T>C
NM_000263.4(NAGLU):c.532-19G>T
NM_000263.4(NAGLU):c.532-6C>T
NM_000263.4(NAGLU):c.537C>T (p.Tyr179=)
NM_000263.4(NAGLU):c.543C>G (p.Ala181=)
NM_000263.4(NAGLU):c.543C>T (p.Ala181=) rs2143086433
NM_000263.4(NAGLU):c.549C>G (p.Gly183=)
NM_000263.4(NAGLU):c.549C>T (p.Gly183=)
NM_000263.4(NAGLU):c.555C>G (p.Thr185=)
NM_000263.4(NAGLU):c.576C>T (p.Phe192=)
NM_000263.4(NAGLU):c.588T>G (p.Pro196=)
NM_000263.4(NAGLU):c.594C>T (p.Phe198=)
NM_000263.4(NAGLU):c.606G>A (p.Gly202=)
NM_000263.4(NAGLU):c.607C>A (p.Arg203=)
NM_000263.4(NAGLU):c.615C>T (p.Gly205=)
NM_000263.4(NAGLU):c.618C>T (p.Asn206=) rs2143086786
NM_000263.4(NAGLU):c.619C>T (p.Leu207=) rs1052395549
NM_000263.4(NAGLU):c.621G>A (p.Leu207=)
NM_000263.4(NAGLU):c.642G>A (p.Leu214=) rs1555621747
NM_000263.4(NAGLU):c.648C>A (p.Pro216=)
NM_000263.4(NAGLU):c.657C>T (p.His219=) rs779235263
NM_000263.4(NAGLU):c.660C>A (p.Ile220=)
NM_000263.4(NAGLU):c.663G>A (p.Lys221=)
NM_000263.4(NAGLU):c.672C>T (p.Tyr224=)
NM_000263.4(NAGLU):c.678+10T>C
NM_000263.4(NAGLU):c.678+17G>A
NM_000263.4(NAGLU):c.678+7G>C
NM_000263.4(NAGLU):c.678+8G>A rs2143087168
NM_000263.4(NAGLU):c.678+8del
NM_000263.4(NAGLU):c.679-11T>G
NM_000263.4(NAGLU):c.679-15_679-12del
NM_000263.4(NAGLU):c.679-16C>G
NM_000263.4(NAGLU):c.679-16C>T
NM_000263.4(NAGLU):c.679-18T>A
NM_000263.4(NAGLU):c.679-19C>G
NM_000263.4(NAGLU):c.679-19C>T
NM_000263.4(NAGLU):c.679-20C>T
NM_000263.4(NAGLU):c.679-5T>C rs2143087834
NM_000263.4(NAGLU):c.679-6C>T
NM_000263.4(NAGLU):c.679-7C>T
NM_000263.4(NAGLU):c.684G>A (p.Arg228=)
NM_000263.4(NAGLU):c.702C>T (p.Arg234=) rs2092913790
NM_000263.4(NAGLU):c.717C>T (p.Thr239=)
NM_000263.4(NAGLU):c.720A>C (p.Pro240=) rs892493572
NM_000263.4(NAGLU):c.732A>C (p.Ala244=) rs200729468
NM_000263.4(NAGLU):c.738G>A (p.Ala246=)
NM_000263.4(NAGLU):c.738G>C (p.Ala246=)
NM_000263.4(NAGLU):c.744T>C (p.His248=)
NM_000263.4(NAGLU):c.750C>G (p.Pro250=) rs539019626
NM_000263.4(NAGLU):c.756T>G (p.Ala252=) rs752423543
NM_000263.4(NAGLU):c.759C>T (p.Val253=)
NM_000263.4(NAGLU):c.762C>A (p.Thr254=)
NM_000263.4(NAGLU):c.762C>T (p.Thr254=)
NM_000263.4(NAGLU):c.764+10C>G
NM_000263.4(NAGLU):c.764+14C>T
NM_000263.4(NAGLU):c.764+16C>T
NM_000263.4(NAGLU):c.764+17C>T
NM_000263.4(NAGLU):c.764+19C>A rs77738617
NM_000263.4(NAGLU):c.764+19C>T rs77738617
NM_000263.4(NAGLU):c.764+20C>A
NM_000263.4(NAGLU):c.764+8T>C rs2143088553
NM_000263.4(NAGLU):c.764+9C>T
NM_000263.4(NAGLU):c.765-12G>C
NM_000263.4(NAGLU):c.765-14T>C
NM_000263.4(NAGLU):c.765-16T>C rs1006672054
NM_000263.4(NAGLU):c.765-17C>T
NM_000263.4(NAGLU):c.765-238del rs369880072
NM_000263.4(NAGLU):c.765-4C>T rs755356822
NM_000263.4(NAGLU):c.765-5A>G
NM_000263.4(NAGLU):c.765-5A>T
NM_000263.4(NAGLU):c.768G>A (p.Val256=) rs2092919944
NM_000263.4(NAGLU):c.771C>T (p.Phe257=) rs1599258298
NM_000263.4(NAGLU):c.780C>A (p.Val260=)
NM_000263.4(NAGLU):c.780C>T (p.Val260=) rs1411789843
NM_000263.4(NAGLU):c.786C>T (p.Val262=) rs1599258325
NM_000263.4(NAGLU):c.789G>A (p.Thr263=) rs746543896
NM_000263.4(NAGLU):c.792G>A (p.Lys264=) rs2092920064
NM_000263.4(NAGLU):c.801T>C (p.Ser267=) rs2143098123
NM_000263.4(NAGLU):c.807C>T (p.Gly269=) rs2092920125
NM_000263.4(NAGLU):c.831C>T (p.Cys277=) rs1555622008
NM_000263.4(NAGLU):c.843G>C (p.Leu281=) rs2143098501
NM_000263.4(NAGLU):c.855C>T (p.Asp285=)
NM_000263.4(NAGLU):c.870C>T (p.Ile290=)
NM_000263.4(NAGLU):c.882C>T (p.Leu294=)
NM_000263.4(NAGLU):c.886C>T (p.Leu296=)
NM_000263.4(NAGLU):c.888G>A (p.Leu296=) rs2143098928
NM_000263.4(NAGLU):c.897G>T (p.Leu299=) rs2143098987
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=) rs1599258507
NM_000263.4(NAGLU):c.930G>A (p.Gly310=)
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.933C>T (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.939T>A (p.Thr313=)
NM_000263.4(NAGLU):c.957A>T (p.Pro319=) rs2143099579
NM_000263.4(NAGLU):c.963C>A (p.Ser321=) rs760910696
NM_000263.4(NAGLU):c.966A>C (p.Ser322=)
NM_000263.4(NAGLU):c.969G>A (p.Glu323=) rs1474272372
NM_000263.4(NAGLU):c.975C>A (p.Ser325=)
NM_000263.4(NAGLU):c.987A>G (p.Ala329=) rs2143099825
NM_000263.4(NAGLU):c.990C>T (p.Ala330=)
NM_000263.4(NAGLU):c.993C>G (p.Thr331=)
NM_000263.4(NAGLU):c.996T>C (p.Thr332=) rs764483473

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.