ClinVar Miner

List of variants in gene HGSNAT reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (324):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 364
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.*2068A>G rs141499920 0.00389
NM_152419.3(HGSNAT):c.*2341G>A rs143662681 0.00375
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00346
NM_152419.3(HGSNAT):c.234+14C>G rs146429523 0.00235
NM_152419.3(HGSNAT):c.*3176G>A rs138613130 0.00140
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_152419.3(HGSNAT):c.*871C>A rs151315641 0.00128
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129 0.00128
NM_152419.3(HGSNAT):c.*149G>T rs191719106 0.00116
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_152419.3(HGSNAT):c.*304C>A rs752711559 0.00076
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00076
NM_152419.3(HGSNAT):c.*778T>C rs557848863 0.00070
NM_152419.3(HGSNAT):c.*772C>G rs538483135 0.00069
NM_152419.3(HGSNAT):c.*390G>A rs541493842 0.00060
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663 0.00051
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729 0.00046
NM_152419.3(HGSNAT):c.*3198G>A rs576281567 0.00042
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_152419.3(HGSNAT):c.*2266G>T rs75120048 0.00035
NM_152419.3(HGSNAT):c.*3086C>T rs531967582 0.00033
NM_152419.3(HGSNAT):c.*2591G>A rs760484403 0.00029
NM_152419.3(HGSNAT):c.*1251C>A rs756060730 0.00024
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00024
NM_152419.3(HGSNAT):c.*1064A>G rs886062958 0.00019
NM_152419.3(HGSNAT):c.*2538A>G rs192349256 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met) rs372961495 0.00018
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=) rs371042202 0.00017
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser) rs371273730 0.00016
NM_152419.3(HGSNAT):c.*2472G>C rs773357212 0.00014
NM_152419.3(HGSNAT):c.*2502A>G rs763278248 0.00014
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225 0.00011
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met) rs367831580 0.00010
NM_152419.3(HGSNAT):c.812G>A (p.Ser271Asn) rs554146681 0.00010
NM_152419.3(HGSNAT):c.*1854C>T rs567024411 0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094 0.00009
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys) rs201735532 0.00008
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala) rs369469113 0.00008
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr) rs369975831 0.00008
NM_152419.3(HGSNAT):c.*1215C>T rs571287184 0.00007
NM_152419.3(HGSNAT):c.*851A>G rs192792114 0.00007
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177 0.00007
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys) rs564435701 0.00007
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met) rs761054871 0.00006
NM_152419.3(HGSNAT):c.*1034G>A rs886062957 0.00005
NM_152419.3(HGSNAT):c.*1436A>G rs373032953 0.00005
NM_152419.3(HGSNAT):c.*649A>G rs1333110406 0.00005
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) rs200238482 0.00005
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly) rs773104757 0.00005
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg) rs980989948 0.00005
NM_152419.3(HGSNAT):c.*1112C>T rs1403363860 0.00004
NM_152419.3(HGSNAT):c.*1378C>T rs886062960 0.00004
NM_152419.3(HGSNAT):c.*2233G>A rs372413542 0.00004
NM_152419.3(HGSNAT):c.*2643G>A rs141803972 0.00004
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe) rs369280586 0.00004
NM_152419.3(HGSNAT):c.1250+6C>T rs762012939 0.00004
NM_152419.3(HGSNAT):c.1517G>A (p.Arg506Gln) rs768973103 0.00004
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg) rs553588867 0.00004
NM_152419.3(HGSNAT):c.1805A>G (p.Asn602Ser) rs754415813 0.00004
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile) rs374287774 0.00004
NM_152419.3(HGSNAT):c.278C>T (p.Ala93Val) rs372055513 0.00004
NM_152419.3(HGSNAT):c.302C>T (p.Ala101Val) rs779516482 0.00004
NM_152419.3(HGSNAT):c.461C>G (p.Ala154Gly) rs373688314 0.00004
NM_152419.3(HGSNAT):c.620G>A (p.Arg207His) rs192297314 0.00004
NM_152419.3(HGSNAT):c.*1137C>T rs142422330 0.00003
NM_152419.3(HGSNAT):c.1088A>G (p.Glu363Gly) rs1028992095 0.00003
NM_152419.3(HGSNAT):c.1093C>T (p.Leu365Phe) rs995331214 0.00003
NM_152419.3(HGSNAT):c.1127C>T (p.Ser376Leu) rs762498109 0.00003
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu) rs746875137 0.00003
NM_152419.3(HGSNAT):c.1613+5G>A rs1006315684 0.00003
NM_152419.3(HGSNAT):c.1885A>C (p.Lys629Gln) rs185367976 0.00003
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser) rs368452647 0.00003
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg) rs368082613 0.00003
NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val) rs138736400 0.00003
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala) rs201952563 0.00003
NM_152419.3(HGSNAT):c.827C>G (p.Thr276Arg) rs751331792 0.00003
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp) rs375524490 0.00003
NM_152419.3(HGSNAT):c.908G>A (p.Arg303Gln) rs368646796 0.00003
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser) rs374892647 0.00003
NM_152419.3(HGSNAT):c.*619T>C rs1000241712 0.00002
NM_152419.3(HGSNAT):c.1070T>C (p.Phe357Ser) rs749415090 0.00002
NM_152419.3(HGSNAT):c.1128+3G>A rs1401358094 0.00002
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492 0.00002
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys) rs777276988 0.00002
NM_152419.3(HGSNAT):c.1456G>A (p.Gly486Arg) rs773361163 0.00002
NM_152419.3(HGSNAT):c.1614-10C>T rs755029430 0.00002
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met) rs377050184 0.00002
NM_152419.3(HGSNAT):c.1753G>A (p.Gly585Ser) rs376476836 0.00002
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934 0.00002
NM_152419.3(HGSNAT):c.371+15T>A rs372920077 0.00002
NM_152419.3(HGSNAT):c.542C>G (p.Ser181Cys) rs375238536 0.00002
NM_152419.3(HGSNAT):c.580A>C (p.Asn194His) rs1414288407 0.00002
NM_152419.3(HGSNAT):c.594A>T (p.Lys198Asn) rs763403091 0.00002
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp) rs774990357 0.00002
NM_152419.3(HGSNAT):c.748G>A (p.Ala250Thr) rs773638310 0.00002
NM_152419.3(HGSNAT):c.*1331T>A rs543569352 0.00001
NM_152419.3(HGSNAT):c.*160C>T rs886062955 0.00001
NM_152419.3(HGSNAT):c.*1841G>A rs886062962 0.00001
NM_152419.3(HGSNAT):c.*2305A>G rs886062963 0.00001
NM_152419.3(HGSNAT):c.*2756G>A rs564747354 0.00001
NM_152419.3(HGSNAT):c.*2801C>G rs886062964 0.00001
NM_152419.3(HGSNAT):c.*2806G>C rs541393074 0.00001
NM_152419.3(HGSNAT):c.*2967C>T rs549454910 0.00001
NM_152419.3(HGSNAT):c.*3241A>G rs886062966 0.00001
NM_152419.3(HGSNAT):c.1027G>A (p.Val343Met) rs1276314637 0.00001
NM_152419.3(HGSNAT):c.1075G>A (p.Val359Ile) rs1200184747 0.00001
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr) rs1476919967 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 0.00001
NM_152419.3(HGSNAT):c.1133G>C (p.Arg378Thr) rs757616564 0.00001
NM_152419.3(HGSNAT):c.1134G>T (p.Arg378Ser) rs2487082952 0.00001
NM_152419.3(HGSNAT):c.1160C>T (p.Thr387Met) rs370653879 0.00001
NM_152419.3(HGSNAT):c.1218G>T (p.Leu406Phe) rs1425393733 0.00001
NM_152419.3(HGSNAT):c.1220C>T (p.Thr407Ile) rs1410211396 0.00001
NM_152419.3(HGSNAT):c.1225C>T (p.Leu409Phe) rs2487083926 0.00001
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr) rs1804531287 0.00001
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His) rs1220333666 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr) rs201901263 0.00001
NM_152419.3(HGSNAT):c.1313C>T (p.Ala438Val) rs1016164503 0.00001
NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser) rs746715452 0.00001
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596 0.00001
NM_152419.3(HGSNAT):c.1433A>G (p.Asn478Ser) rs148467283 0.00001
NM_152419.3(HGSNAT):c.1474A>G (p.Ile492Val) rs766052009 0.00001
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro) rs1433404175 0.00001
NM_152419.3(HGSNAT):c.1535G>C (p.Cys512Ser) rs762252722 0.00001
NM_152419.3(HGSNAT):c.1559C>T (p.Ala520Val) rs374619489 0.00001
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met) rs561701894 0.00001
NM_152419.3(HGSNAT):c.1591A>C (p.Ile531Leu) rs1804772048 0.00001
NM_152419.3(HGSNAT):c.1742T>C (p.Leu581Pro) rs1289280677 0.00001
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys) rs1163166400 0.00001
NM_152419.3(HGSNAT):c.1775A>G (p.Tyr592Cys) rs1051645354 0.00001
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val) rs1266245327 0.00001
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val) rs776791119 0.00001
NM_152419.3(HGSNAT):c.185T>C (p.Leu62Pro) rs1304780108 0.00001
NM_152419.3(HGSNAT):c.1865T>C (p.Ile622Thr) rs1240119393 0.00001
NM_152419.3(HGSNAT):c.1870T>C (p.Tyr624His) rs1323309540 0.00001
NM_152419.3(HGSNAT):c.1871A>G (p.Tyr624Cys) rs773631016 0.00001
NM_152419.3(HGSNAT):c.234C>T (p.His78=) rs760790643 0.00001
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg) rs1427202401 0.00001
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr) rs768887468 0.00001
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) rs765211666 0.00001
NM_152419.3(HGSNAT):c.437T>C (p.Val146Ala) rs912586638 0.00001
NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp) rs1399122628 0.00001
NM_152419.3(HGSNAT):c.493+4C>T rs372471081 0.00001
NM_152419.3(HGSNAT):c.493+5G>A rs781408761 0.00001
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser) rs752128693 0.00001
NM_152419.3(HGSNAT):c.559T>G (p.Leu187Val) rs1408418542 0.00001
NM_152419.3(HGSNAT):c.563+3A>G rs753027018 0.00001
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=) rs1355715592 0.00001
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys) rs199861011 0.00001
NM_152419.3(HGSNAT):c.653G>A (p.Arg218Lys) rs775922205 0.00001
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly) rs1803591916 0.00001
NM_152419.3(HGSNAT):c.664C>T (p.Leu222Phe) rs1358373785 0.00001
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala) rs758464800 0.00001
NM_152419.3(HGSNAT):c.695G>A (p.Arg232His) rs371869844 0.00001
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val) rs777641646 0.00001
NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu) rs1218261294 0.00001
NM_152419.3(HGSNAT):c.722G>A (p.Arg241His) rs1231838743 0.00001
NM_152419.3(HGSNAT):c.727G>A (p.Val243Met) rs373469974 0.00001
NM_152419.3(HGSNAT):c.762G>A (p.Met254Ile) rs751701983 0.00001
NM_152419.3(HGSNAT):c.820+6A>G rs746644852 0.00001
NM_152419.3(HGSNAT):c.838C>T (p.Leu280Phe) rs1245295975 0.00001
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met) rs1287447019 0.00001
NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys) rs777146364 0.00001
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu) rs372933126 0.00001
NM_152419.3(HGSNAT):c.936G>T (p.Gly312=) rs1238522676 0.00001
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val) rs1446334240 0.00001
NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr) rs906833070 0.00001
NC_000008.10:g.(?_43013698)_(43054712_?)dup
NC_000008.10:g.(?_43024296)_(43054712_?)dup
NC_000008.10:g.(?_43027433)_(43054712_?)dup
NC_000008.10:g.(?_43033197)_(43054712_?)dup
NC_000008.10:g.(?_43037268)_(43054712_?)dup
NC_000008.10:g.(?_43046597)_(43054712_?)dup
NC_000008.10:g.(?_43052071)_(43054712_?)dup
NC_000008.11:g.(?_43139449)_(43203827_?)dup
NC_000008.11:g.(?_43140487)_(43199579_?)dup
NM_152419.3(HGSNAT):c.*1026G>C rs533282054
NM_152419.3(HGSNAT):c.*1100_*1103del rs886062959
NM_152419.3(HGSNAT):c.*1204C>A rs763225051
NM_152419.3(HGSNAT):c.*1214C>A rs1250097718
NM_152419.3(HGSNAT):c.*1219G>A rs989915640
NM_152419.3(HGSNAT):c.*1584A>G rs1804905348
NM_152419.3(HGSNAT):c.*1696T>G rs1278712308
NM_152419.3(HGSNAT):c.*1750C>T rs886062961
NM_152419.3(HGSNAT):c.*1925A>G rs1804916088
NM_152419.3(HGSNAT):c.*196T>G rs886062956
NM_152419.3(HGSNAT):c.*2434G>A rs1804930624
NM_152419.3(HGSNAT):c.*2620A>C rs1804936973
NM_152419.3(HGSNAT):c.*2950A>G rs1804948886
NM_152419.3(HGSNAT):c.*3044dup rs886062965
NM_152419.3(HGSNAT):c.*574C>G rs1804870887
NM_152419.3(HGSNAT):c.*581T>C rs772452020
NM_152419.3(HGSNAT):c.*612A>C rs1325231089
NM_152419.3(HGSNAT):c.*857C>T rs143991538
NM_152419.3(HGSNAT):c.1006G>A (p.Gly336Ser) rs2130766732
NM_152419.3(HGSNAT):c.1006G>T (p.Gly336Cys) rs2130766732
NM_152419.3(HGSNAT):c.1012+2dup rs1554533241
NM_152419.3(HGSNAT):c.1012T>G (p.Leu338Val) rs2487003685
NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu) rs1276314637
NM_152419.3(HGSNAT):c.1033A>G (p.Ile345Val) rs2130783652
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) rs1318217031
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln) rs1299209150
NM_152419.3(HGSNAT):c.1052G>T (p.Arg351Leu) rs1299209150
NM_152419.3(HGSNAT):c.1069T>C (p.Phe357Leu) rs2130783774
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=) rs757385876
NM_152419.3(HGSNAT):c.1106C>G (p.Pro369Arg) rs2130783868
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu) rs1804152812
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=) rs770462636
NM_152419.3(HGSNAT):c.1132A>T (p.Arg378Trp) rs2130805062
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu) rs377486419
NM_152419.3(HGSNAT):c.1155C>G (p.Asp385Glu) rs768343523
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu) rs1804527192
NM_152419.3(HGSNAT):c.1175A>T (p.Gln392Leu) rs772905027
NM_152419.3(HGSNAT):c.1180C>A (p.Leu394Met) rs1335612982
NM_152419.3(HGSNAT):c.1185_1196del (p.Ile396_Leu399del) rs2487083513
NM_152419.3(HGSNAT):c.1237C>G (p.Pro413Ala) rs201346206
NM_152419.3(HGSNAT):c.1256A>G (p.Tyr419Cys) rs1804564462
NM_152419.3(HGSNAT):c.1265C>G (p.Pro422Arg) rs2487088837
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp) rs1064795522
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=) rs2130807297
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser) rs747616932
NM_152419.3(HGSNAT):c.1271G>A (p.Gly424Asp) rs2130807313
NM_152419.3(HGSNAT):c.1291T>C (p.Tyr431His) rs2487089068
NM_152419.3(HGSNAT):c.1309G>A (p.Gly437Arg)
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly) rs1804567846
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn) rs750583721
NM_152419.3(HGSNAT):c.1330C>G (p.Arg444Gly) rs763301637
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152419.3(HGSNAT):c.1356_1358del (p.Tyr453del) rs2487089660
NM_152419.3(HGSNAT):c.1358A>G (p.Tyr453Cys) rs2487089676
NM_152419.3(HGSNAT):c.1370C>T (p.Ser457Phe) rs751988026
NM_152419.3(HGSNAT):c.1378G>A (p.Val460Ile) rs1460685113
NM_152419.3(HGSNAT):c.137A>T (p.His46Leu) rs2130677199
NM_152419.3(HGSNAT):c.1393G>A (p.Glu465Lys) rs753112671
NM_152419.3(HGSNAT):c.1396G>A (p.Val466Met) rs1414923802
NM_152419.3(HGSNAT):c.1403A>G (p.Tyr468Cys)
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln) rs753355844
NM_152419.3(HGSNAT):c.1420C>G (p.Leu474Val) rs1804620596
NM_152419.3(HGSNAT):c.142G>A (p.Glu48Lys) rs1182131036
NM_152419.3(HGSNAT):c.1433A>C (p.Asn478Thr) rs148467283
NM_152419.3(HGSNAT):c.1457G>T (p.Gly486Val) rs1804622640
NM_152419.3(HGSNAT):c.1465-10T>C rs1804745819
NM_152419.3(HGSNAT):c.1465-17T>A rs764680385
NM_152419.3(HGSNAT):c.1465-4_1465-3delinsGA rs2487114134
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1516C>G (p.Arg506Gly) rs747240928
NM_152419.3(HGSNAT):c.1532G>A (p.Cys511Tyr) rs2487114700
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1543-20_1543-7delinsTTTCTGAGATAATAATATAAAATG rs2130821034
NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn) rs1802738082
NM_152419.3(HGSNAT):c.1601A>T (p.Asn534Ile) rs2130821294
NM_152419.3(HGSNAT):c.1612T>C (p.Trp538Arg) rs1203092226
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) rs1372286994
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys) rs377050184
NM_152419.3(HGSNAT):c.1643C>T (p.Ser548Phe) rs1804778997
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) rs1563386838
NM_152419.3(HGSNAT):c.1692G>C (p.Lys564Asn) rs1453700530
NM_152419.3(HGSNAT):c.1703C>A (p.Thr568Lys) rs1157493942
NM_152419.3(HGSNAT):c.1716C>A (p.Phe572Leu) rs1366430289
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys) rs1177263214
NM_152419.3(HGSNAT):c.1723C>G (p.Pro575Ala) rs754143732
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser) rs754143732
NM_152419.3(HGSNAT):c.1726G>A (p.Gly576Arg) rs1366558211
NM_152419.3(HGSNAT):c.1727-3A>C rs2487125582
NM_152419.3(HGSNAT):c.1732A>T (p.Asn578Tyr) rs2487125629
NM_152419.3(HGSNAT):c.1749_1750inv (p.Val584Ile)
NM_152419.3(HGSNAT):c.174C>G (p.Ile58Met) rs749911696
NM_152419.3(HGSNAT):c.1752C>A (p.Val584=) rs200678234
NM_152419.3(HGSNAT):c.1753G>C (p.Gly585Arg) rs376476836
NM_152419.3(HGSNAT):c.1762G>A (p.Val588Met) rs762123513
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr) rs1804845888
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs) rs1298170960
NM_152419.3(HGSNAT):c.1786C>T (p.Gln596Ter) rs750824770
NM_152419.3(HGSNAT):c.1789T>G (p.Trp597Gly) rs2487125962
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro) rs928930218
NM_152419.3(HGSNAT):c.1801G>C (p.Asp601His) rs2487126035
NM_152419.3(HGSNAT):c.1839C>G (p.Ile613Met) rs772611068
NM_152419.3(HGSNAT):c.1856G>C (p.Trp619Ser) rs1563388121
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter) rs1554538302
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met) rs1413168448
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs) rs1554538306
NM_152419.3(HGSNAT):c.1864A>G (p.Ile622Val) rs2130825945
NM_152419.3(HGSNAT):c.1885A>G (p.Lys629Glu)
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg) rs1804852352
NM_152419.3(HGSNAT):c.1886AGA[1] (p.Lys630del) rs778163262
NM_152419.3(HGSNAT):c.1892T>C (p.Ile631Thr) rs1278951967
NM_152419.3(HGSNAT):c.1901A>C (p.Lys634Thr) rs2130826037
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer) rs1409093216
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.218C>T (p.Ser73Phe) rs376344391
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp) rs1802741553
NM_152419.3(HGSNAT):c.234+5G>A rs1490617702
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg) rs1803164820
NM_152419.3(HGSNAT):c.239T>C (p.Leu80Ser) rs1205856414
NM_152419.3(HGSNAT):c.253G>A (p.Val85Ile) rs1185589534
NM_152419.3(HGSNAT):c.260T>G (p.Val87Gly) rs2130713856
NM_152419.3(HGSNAT):c.263C>T (p.Pro88Leu) rs760878644
NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly) rs764229375
NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly) rs372055513
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr) rs374071098
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg) rs374071098
NM_152419.3(HGSNAT):c.311G>A (p.Ser104Asn) rs1586712145
NM_152419.3(HGSNAT):c.349T>G (p.Leu117Val) rs767496944
NM_152419.3(HGSNAT):c.371+5G>A
NM_152419.3(HGSNAT):c.371+5G>T rs1644932736
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys) rs1803172725
NM_152419.3(HGSNAT):c.375G>A (p.Leu125=) rs2130715134
NM_152419.3(HGSNAT):c.386T>C (p.Phe129Ser) rs1803180920
NM_152419.3(HGSNAT):c.387T>A (p.Phe129Leu) rs932582298
NM_152419.3(HGSNAT):c.395T>C (p.Phe132Ser) rs769984670
NM_152419.3(HGSNAT):c.402C>G (p.Asn134Lys) rs2130715230
NM_152419.3(HGSNAT):c.409C>G (p.Leu137Val) rs773170952
NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe) rs773170952
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln) rs1554529803
NM_152419.3(HGSNAT):c.446T>C (p.Ile149Thr)
NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser) rs1803184135
NM_152419.3(HGSNAT):c.458T>C (p.Leu153Pro) rs2486908835
NM_152419.3(HGSNAT):c.467A>G (p.Asn156Ser) rs1803184570
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys) rs553837106
NM_152419.3(HGSNAT):c.475C>T (p.Pro159Ser) rs573840743
NM_152419.3(HGSNAT):c.490C>T (p.Leu164Phe) rs2130715697
NM_152419.3(HGSNAT):c.493+4C>G rs372471081
NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr) rs750046807
NM_152419.3(HGSNAT):c.517G>A (p.Gly173Ser)
NM_152419.3(HGSNAT):c.531C>G (p.Ile177Met) rs2486919261
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met) rs1195940980
NM_152419.3(HGSNAT):c.548T>G (p.Leu183Arg) rs2486919396
NM_152419.3(HGSNAT):c.563G>A (p.Ser188Asn) rs2130722111
NM_152419.3(HGSNAT):c.599T>A (p.Ile200Lys) rs2486955858
NM_152419.3(HGSNAT):c.604T>C (p.Ser202Pro) rs1301134251
NM_152419.3(HGSNAT):c.604_605delinsAA (p.Ser202Asn) rs2486955919
NM_152419.3(HGSNAT):c.605C>G (p.Ser202Cys) rs1385208624
NM_152419.3(HGSNAT):c.614C>A (p.Thr205Asn) rs1454265686
NM_152419.3(HGSNAT):c.667G>C (p.Asp223His) rs1025285008
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup) rs1554531686
NM_152419.3(HGSNAT):c.675T>G (p.Asp225Glu) rs951025520
NM_152419.3(HGSNAT):c.680A>G (p.Gln227Arg) rs200505085
NM_152419.3(HGSNAT):c.685G>A (p.Ala229Thr) rs1803593895
NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys) rs1586725294
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu) rs727503962
NM_152419.3(HGSNAT):c.725G>A (p.Ser242Asn) rs2130746199
NM_152419.3(HGSNAT):c.743+4T>C rs765682296
NM_152419.3(HGSNAT):c.743G>A (p.Gly248Glu)
NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala) rs1324238938
NM_152419.3(HGSNAT):c.743G>T (p.Gly248Val) rs1324238938
NM_152419.3(HGSNAT):c.756_761del (p.Ile252_Leu253del) rs2130750552
NM_152419.3(HGSNAT):c.757C>G (p.Leu253Val) rs2130750568
NM_152419.3(HGSNAT):c.778G>A (p.Gly260Arg) rs2130750679
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys) rs1554532014
NM_152419.3(HGSNAT):c.821G>C (p.Gly274Ala)
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.877A>G (p.Ile293Val) rs779347965
NM_152419.3(HGSNAT):c.900A>G (p.Ile300Met) rs2487002486
NM_152419.3(HGSNAT):c.906A>T (p.Gln302His) rs886062954
NM_152419.3(HGSNAT):c.945_946delinsTC (p.Trp316Arg) rs2487003005
NM_152419.3(HGSNAT):c.952A>C (p.Ser318Arg) rs2487003092
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933
NM_152419.3(HGSNAT):c.986T>C (p.Val329Ala) rs1237864552
NM_152419.3(HGSNAT):c.994A>G (p.Asn332Asp) rs758826519

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