ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 279
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser) rs371273730 0.00018
NM_152419.3(HGSNAT):c.812G>A (p.Ser271Asn) rs554146681 0.00017
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met) rs372961495 0.00016
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met) rs367831580 0.00010
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro) rs1025643467 0.00010
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys) rs201735532 0.00008
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp) rs371469177 0.00006
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225 0.00006
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val) rs777641646 0.00006
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys) rs564435701 0.00006
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg) rs980989948 0.00005
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.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.461C>G (p.Ala154Gly) rs373688314 0.00004
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala) rs201952563 0.00004
NM_152419.3(HGSNAT):c.827C>G (p.Thr276Arg) rs751331792 0.00004
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser) rs374892647 0.00004
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.317A>G (p.Gln106Arg) rs368082613 0.00003
NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val) rs138736400 0.00003
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp) rs375524490 0.00003
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.1456G>A (p.Gly486Arg) rs773361163 0.00002
NM_152419.3(HGSNAT):c.1559C>T (p.Ala520Val) rs374619489 0.00002
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met) rs377050184 0.00002
NM_152419.3(HGSNAT):c.278C>T (p.Ala93Val) rs372055513 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.1075G>A (p.Val359Ile) rs1200184747 0.00001
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr) rs1476919967 0.00001
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu) rs1465935790 0.00001
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636 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.1231C>A (p.Pro411Thr) rs1804531287 0.00001
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser) rs538620581 0.00001
NM_152419.3(HGSNAT):c.1313C>T (p.Ala438Val) rs1016164503 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.1565C>T (p.Thr522Met) rs561701894 0.00001
NM_152419.3(HGSNAT):c.1591A>C (p.Ile531Leu) rs1804772048 0.00001
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys) rs1163166400 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.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.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.594A>T (p.Lys198Asn) rs763403091 0.00001
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys) rs199861011 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.713C>T (p.Pro238Leu) rs1218261294 0.00001
NM_152419.3(HGSNAT):c.722G>A (p.Arg241His) rs1231838743 0.00001
NM_152419.3(HGSNAT):c.762G>A (p.Met254Ile) rs751701983 0.00001
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg) rs1387365931 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.89G>C (p.Gly30Ala) rs1490698793 0.00001
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val) rs1446334240 0.00001
NC_000008.10:g.(?_42958672)_(43054732_?)dup
NC_000008.10:g.(?_42958692)_(43016670_?)dup
NC_000008.10:g.(?_42958692)_(43054712_?)dup
NC_000008.10:g.(?_43002091)_(43159912_?)dup
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.(?_43083118)_(43304769_?)dup
NC_000008.11:g.(?_43139449)_(43203827_?)dup
NC_000008.11:g.(?_43140487)_(43199579_?)dup
NM_152419.3(HGSNAT):c.1006G>A (p.Gly336Ser)
NM_152419.3(HGSNAT):c.1006G>T (p.Gly336Cys) rs2130766732
NM_152419.3(HGSNAT):c.1012T>G (p.Leu338Val)
NM_152419.3(HGSNAT):c.1027G>A (p.Val343Met)
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.1088A>G (p.Glu363Gly)
NM_152419.3(HGSNAT):c.1106C>G (p.Pro369Arg) rs2130783868
NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg) rs1465935790
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.1133G>C (p.Arg378Thr)
NM_152419.3(HGSNAT):c.1134G>T (p.Arg378Ser)
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu) rs377486419
NM_152419.3(HGSNAT):c.1155C>G (p.Asp385Glu)
NM_152419.3(HGSNAT):c.1175A>T (p.Gln392Leu) rs772905027
NM_152419.3(HGSNAT):c.117A>C (p.Arg39=) rs1802484828
NM_152419.3(HGSNAT):c.1180C>A (p.Leu394Met) rs1335612982
NM_152419.3(HGSNAT):c.1185_1196del (p.Ile396_Leu399del)
NM_152419.3(HGSNAT):c.1225C>T (p.Leu409Phe)
NM_152419.3(HGSNAT):c.1237C>G (p.Pro413Ala) rs201346206
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His) rs1220333666
NM_152419.3(HGSNAT):c.1256A>G (p.Tyr419Cys)
NM_152419.3(HGSNAT):c.1265C>G (p.Pro422Arg)
NM_152419.3(HGSNAT):c.1271G>A (p.Gly424Asp) rs2130807313
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys) rs777276988
NM_152419.3(HGSNAT):c.1291T>C (p.Tyr431His)
NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr)
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly) rs1804567846
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
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)
NM_152419.3(HGSNAT):c.1358A>G (p.Tyr453Cys)
NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)
NM_152419.3(HGSNAT):c.1370C>T (p.Ser457Phe)
NM_152419.3(HGSNAT):c.1378G>A (p.Val460Ile)
NM_152419.3(HGSNAT):c.137A>T (p.His46Leu) rs2130677199
NM_152419.3(HGSNAT):c.1393G>A (p.Glu465Lys)
NM_152419.3(HGSNAT):c.1396G>A (p.Val466Met) rs1414923802
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)
NM_152419.3(HGSNAT):c.1433A>G (p.Asn478Ser)
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
NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)
NM_152419.3(HGSNAT):c.1516C>G (p.Arg506Gly)
NM_152419.3(HGSNAT):c.1532G>A (p.Cys511Tyr)
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)
NM_152419.3(HGSNAT):c.1613+5G>A
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.1692G>C (p.Lys564Asn)
NM_152419.3(HGSNAT):c.1703C>A (p.Thr568Lys)
NM_152419.3(HGSNAT):c.1716C>A (p.Phe572Leu)
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys) rs1177263214
NM_152419.3(HGSNAT):c.1723C>G (p.Pro575Ala)
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
NM_152419.3(HGSNAT):c.1732A>T (p.Asn578Tyr)
NM_152419.3(HGSNAT):c.1742T>C (p.Leu581Pro)
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=)
NM_152419.3(HGSNAT):c.1753G>A (p.Gly585Ser)
NM_152419.3(HGSNAT):c.1753G>C (p.Gly585Arg) rs376476836
NM_152419.3(HGSNAT):c.1762G>A (p.Val588Met)
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr) rs1804845888
NM_152419.3(HGSNAT):c.1775A>G (p.Tyr592Cys)
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)
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro) rs928930218
NM_152419.3(HGSNAT):c.1801G>C (p.Asp601His)
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val) rs1266245327
NM_152419.3(HGSNAT):c.1839C>G (p.Ile613Met)
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met) rs1413168448
NM_152419.3(HGSNAT):c.1864A>G (p.Ile622Val) rs2130825945
NM_152419.3(HGSNAT):c.1870T>C (p.Tyr624His)
NM_152419.3(HGSNAT):c.1885A>C (p.Lys629Gln)
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)
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.218C>T (p.Ser73Phe)
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp) rs1802741553
NM_152419.3(HGSNAT):c.234+5G>A
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg) rs1803164820
NM_152419.3(HGSNAT):c.239T>C (p.Leu80Ser)
NM_152419.3(HGSNAT):c.253G>A (p.Val85Ile)
NM_152419.3(HGSNAT):c.260T>G (p.Val87Gly) rs2130713856
NM_152419.3(HGSNAT):c.263C>T (p.Pro88Leu)
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.28G>C (p.Ala10Pro)
NM_152419.3(HGSNAT):c.302C>T (p.Ala101Val)
NM_152419.3(HGSNAT):c.311G>A (p.Ser104Asn) rs1586712145
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del) rs1274083689
NM_152419.3(HGSNAT):c.349T>G (p.Leu117Val)
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.371+5G>T
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)
NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe) rs773170952
NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val) rs2130647887
NM_152419.3(HGSNAT):c.437T>C (p.Val146Ala)
NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu) rs2130647901
NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del) rs2130647831
NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser) rs1803184135
NM_152419.3(HGSNAT):c.458T>C (p.Leu153Pro)
NM_152419.3(HGSNAT):c.467A>G (p.Asn156Ser)
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys) rs553837106
NM_152419.3(HGSNAT):c.475C>T (p.Pro159Ser)
NM_152419.3(HGSNAT):c.490C>T (p.Leu164Phe) rs2130715697
NM_152419.3(HGSNAT):c.493+4C>G
NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr) rs750046807
NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)
NM_152419.3(HGSNAT):c.531C>G (p.Ile177Met)
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met) rs1195940980
NM_152419.3(HGSNAT):c.542C>G (p.Ser181Cys)
NM_152419.3(HGSNAT):c.548T>G (p.Leu183Arg)
NM_152419.3(HGSNAT):c.559T>G (p.Leu187Val)
NM_152419.3(HGSNAT):c.563G>A (p.Ser188Asn) rs2130722111
NM_152419.3(HGSNAT):c.580A>C (p.Asn194His)
NM_152419.3(HGSNAT):c.599T>A (p.Ile200Lys)
NM_152419.3(HGSNAT):c.604T>C (p.Ser202Pro)
NM_152419.3(HGSNAT):c.604_605delinsAA (p.Ser202Asn)
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.620G>A (p.Arg207His)
NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)
NM_152419.3(HGSNAT):c.653G>A (p.Arg218Lys)
NM_152419.3(HGSNAT):c.667G>C (p.Asp223His) rs1025285008
NM_152419.3(HGSNAT):c.675T>G (p.Asp225Glu)
NM_152419.3(HGSNAT):c.680A>G (p.Gln227Arg)
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.727G>A (p.Val243Met)
NM_152419.3(HGSNAT):c.743+4T>C rs765682296
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.744-16T>C
NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg) rs2130648242
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.820+6A>G
NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro) rs1802482509
NM_152419.3(HGSNAT):c.877A>G (p.Ile293Val)
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu) rs1490698793
NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)
NM_152419.3(HGSNAT):c.900A>G (p.Ile300Met)
NM_152419.3(HGSNAT):c.908G>A (p.Arg303Gln)
NM_152419.3(HGSNAT):c.936G>T (p.Gly312=)
NM_152419.3(HGSNAT):c.945_946delinsTC (p.Trp316Arg)
NM_152419.3(HGSNAT):c.952A>C (p.Ser318Arg)
NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933
NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr) rs906833070
NM_152419.3(HGSNAT):c.986T>C (p.Val329Ala)
NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val) rs1802483575
NM_152419.3(HGSNAT):c.994A>G (p.Asn332Asp)

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