ClinVar Miner

List of variants reported as likely benign for mucopolysaccharidosis type 3B by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 557
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.199C>T (p.Leu67=) rs920631661 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.2218G>C (p.Ala740Pro) rs750668298 0.00003
NM_000263.4(NAGLU):c.255C>T (p.Ala85=) rs1229160465 0.00003
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val) rs575956298 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.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.198C>T (p.Ser66=) rs1208771812 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.105C>T (p.Leu35=) rs954871115 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.114G>C (p.Arg38=) rs2092906079 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.135G>C (p.Ala45=) rs2092906139 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.144C>T (p.Phe48=) rs104894599 0.00001
NM_000263.4(NAGLU):c.147C>T (p.Ser49=) rs1312501106 0.00001
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=) rs1318650686 0.00001
NM_000263.4(NAGLU):c.159G>A (p.Glu53=) rs910639529 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.180G>A (p.Pro60=) rs1449219265 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.228G>A (p.Arg76=) rs1220553522 0.00001
NM_000263.4(NAGLU):c.231G>C (p.Val77=) rs949225882 0.00001
NM_000263.4(NAGLU):c.261G>C (p.Ala87=) rs1452325580 0.00001
NM_000263.4(NAGLU):c.270C>T (p.His90=) rs1360267129 0.00001
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=) rs753801626 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.48C>T (p.Ala16=) rs1312488945 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.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.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+18G>A
NM_000263.4(NAGLU):c.1021+9C>T
NM_000263.4(NAGLU):c.1022-10C>G
NM_000263.4(NAGLU):c.1022-13C>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.1022-18C>G
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.1029T>G (p.Thr343=)
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.108G>T (p.Val36=) rs2092906054
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.111C>G (p.Ala37=) rs2143075712
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=)
NM_000263.4(NAGLU):c.1128C>T (p.Gly376=)
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=)
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=)
NM_000263.4(NAGLU):c.1137G>A (p.Leu379=)
NM_000263.4(NAGLU):c.1140T>A (p.Val380=)
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=) rs2143108047
NM_000263.4(NAGLU):c.115C>T (p.Leu39=) rs2143075772
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.120G>A (p.Leu40=)
NM_000263.4(NAGLU):c.120G>T (p.Leu40=) rs2143075800
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=)
NM_000263.4(NAGLU):c.123G>T (p.Gly41=) rs1170826218
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=)
NM_000263.4(NAGLU):c.1254A>G (p.Gly418=)
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.126A>G (p.Pro42=) rs1463936178
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.129C>A (p.Gly43=)
NM_000263.4(NAGLU):c.12G>A (p.Val4=)
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.132C>A (p.Pro44=)
NM_000263.4(NAGLU):c.132C>G (p.Pro44=) rs1489090930
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.138C>A (p.Ala46=) rs2143075937
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=) rs1567893530
NM_000263.4(NAGLU):c.141C>T (p.Asp47=) rs2143075952
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.1464G>T (p.Pro488=)
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=)
NM_000263.4(NAGLU):c.147C>G (p.Ser49=) rs1312501106
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.153G>C (p.Ser51=) rs2143076082
NM_000263.4(NAGLU):c.153G>T (p.Ser51=) rs2143076082
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.15G>A (p.Ala5=)
NM_000263.4(NAGLU):c.15G>T (p.Ala5=) rs2092905675
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.162C>A (p.Arg54=)
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.165T>C (p.Ala55=)
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.1689C>G (p.Leu563=)
NM_000263.4(NAGLU):c.168G>A (p.Leu56=)
NM_000263.4(NAGLU):c.168G>C (p.Leu56=) rs2092906262
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.177G>A (p.Lys59=) rs1288446882
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.180G>C (p.Pro60=) rs1449219265
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.183C>A (p.Gly61=)
NM_000263.4(NAGLU):c.183C>G (p.Gly61=) rs2143076268
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=)
NM_000263.4(NAGLU):c.184T>C (p.Leu62=)
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.1896G>A (p.Glu632=) rs2143114448
NM_000263.4(NAGLU):c.18G>A (p.Val6=) rs1599253491
NM_000263.4(NAGLU):c.18G>C (p.Val6=) rs1599253491
NM_000263.4(NAGLU):c.1929C>A (p.Arg643=)
NM_000263.4(NAGLU):c.192C>T (p.Thr64=)
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=)
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.201G>A (p.Leu67=) rs2143076387
NM_000263.4(NAGLU):c.2022C>T (p.Arg674=) rs2143115704
NM_000263.4(NAGLU):c.2035C>T (p.Leu679=)
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.207C>T (p.Gly69=)
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.210C>T (p.Gly70=)
NM_000263.4(NAGLU):c.2121C>G (p.Ala707=)
NM_000263.4(NAGLU):c.213C>T (p.Gly71=)
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.219G>A (p.Ala73=) rs2092906518
NM_000263.4(NAGLU):c.21C>G (p.Ala7=)
NM_000263.4(NAGLU):c.21C>T (p.Ala7=)
NM_000263.4(NAGLU):c.2205C>T (p.Tyr735=)
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly) rs2092931038
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=)
NM_000263.4(NAGLU):c.222C>G (p.Arg74=) rs2143076606
NM_000263.4(NAGLU):c.225G>T (p.Val75=)
NM_000263.4(NAGLU):c.234C>T (p.Arg78=)
NM_000263.4(NAGLU):c.243G>T (p.Thr81=)
NM_000263.4(NAGLU):c.249G>A (p.Val83=)
NM_000263.4(NAGLU):c.24G>A (p.Ala8=)
NM_000263.4(NAGLU):c.24G>T (p.Ala8=)
NM_000263.4(NAGLU):c.252G>A (p.Ala84=)
NM_000263.4(NAGLU):c.258C>G (p.Ala86=) rs1381587394
NM_000263.4(NAGLU):c.258C>T (p.Ala86=)
NM_000263.4(NAGLU):c.261G>T (p.Ala87=)
NM_000263.4(NAGLU):c.265C>T (p.Leu89=) rs2143076945
NM_000263.4(NAGLU):c.267G>A (p.Leu89=) rs2143076955
NM_000263.4(NAGLU):c.273C>T (p.Arg91=) rs2143076997
NM_000263.4(NAGLU):c.27G>A (p.Ala9=)
NM_000263.4(NAGLU):c.27G>T (p.Ala9=) rs1002286212
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.30G>T (p.Val10=) rs1244442641
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.32G>C (p.Gly11Ala)
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.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.36C>T (p.Val12=)
NM_000263.4(NAGLU):c.372C>T (p.Ala124=)
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>G
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.384-4G>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.39T>G (p.Leu13=)
NM_000263.4(NAGLU):c.402T>C (p.Asn134=)
NM_000263.4(NAGLU):c.444C>T (p.Ala148=)
NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro)
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.501C>T (p.Ala167=)
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.51G>A (p.Gly17=) rs2143075377
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+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.532-9C>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.54C>A (p.Ala18=)
NM_000263.4(NAGLU):c.54C>G (p.Ala18=) rs1276497226
NM_000263.4(NAGLU):c.54C>T (p.Ala18=)
NM_000263.4(NAGLU):c.555C>G (p.Thr185=)
NM_000263.4(NAGLU):c.576C>T (p.Phe192=)
NM_000263.4(NAGLU):c.57G>A (p.Gly19=) rs2143075427
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.60C>G (p.Gly20=)
NM_000263.4(NAGLU):c.60C>T (p.Gly20=) rs1421818277
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.63G>A (p.Ala21=)
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+8G>C
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.684G>T (p.Arg228=)
NM_000263.4(NAGLU):c.69C>G (p.Gly23=) rs2092905938
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.741G>A (p.Gly247=)
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+10del
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+7T>G
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.765-4C>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.78C>G (p.Ala26=) rs2092905964
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.819T>C (p.Cys273=)
NM_000263.4(NAGLU):c.81G>C (p.Arg27=) rs1021204618
NM_000263.4(NAGLU):c.81G>T (p.Arg27=)
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.87G>A (p.Ala29=) rs2092905997
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.90G>A (p.Ala30=) rs2143075591
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>T (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.939T>A (p.Thr313=)
NM_000263.4(NAGLU):c.93C>T (p.Ala31=)
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
NM_000263.4(NAGLU):c.99G>A (p.Arg33=) rs2143075635
NM_000263.4(NAGLU):c.9G>A (p.Ala3=) rs1366797084
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806

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