ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 327
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HGVS dbSNP
NC_000008.10:g.(?_42958672)_(43054732_?)dup
NC_000008.10:g.(?_43013698)_(43054712_?)dup
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NC_000008.10:g.(?_43052081)_(43053105_?)del
NC_000008.11:g.(?_43083118)_(43304769_?)dup
NC_000008.11:g.(?_43139449)_(43203827_?)dup
NC_000008.11:g.(?_43140487)_(43199579_?)dup
NC_000008.11:g.(?_43140497)_(43161507_?)del
NC_000008.11:g.(?_43169153)_(43178254_?)del
NC_000008.11:g.(?_43196928)_(43197972_?)del
NM_152419.3(HGSNAT):c.1002C>T (p.Cys334=)
NM_152419.3(HGSNAT):c.1012+10T>A rs372410947
NM_152419.3(HGSNAT):c.1013-1G>C
NM_152419.3(HGSNAT):c.1013-4G>A
NM_152419.3(HGSNAT):c.1023C>T (p.Asp341=) rs772729729
NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu)
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285
NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) rs766835582
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met) rs1318217031
NM_152419.3(HGSNAT):c.1044G>A (p.Val348=)
NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter)
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln)
NM_152419.3(HGSNAT):c.1052G>T (p.Arg351Leu)
NM_152419.3(HGSNAT):c.1054_1055insATCAATTTCTAATGGGATTTCCAGAGTTGAAAAAGACAAATATTCAGCTTTAGGAAGCACAGTTGAGTCCTGAGCAGTACAAATAAAAATATAGGCTGGGCACAGTGGCTCACATGTGTAATCCCAGCACTTTCGGAGGCTGAGGTGGGTGGATTGCTGGAGTCCAGCAGTTTGAAAACAGCCTGAGCAACATGGCAAGACCCCATCTCTACAAAAAATACAACAATTATCCGGGCATGGTGGCACAAGCCCGTAGTCCCAGCTACTCAGGAAGCTGAGGTGGATCGCTTGAGCCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCACACTGAATGACAGAGTGAGACTGTCTTAATAAAAAATATGAGTCAGCGTATAAGTTAAAAGGAGTTTTAAAAGATACTAATCCAAAAGAAGGCAGAAAAGGAGAAACATAATAGACTTACCAGCCCAATTTAAAAGTCAGGGATTATAAACATGAATTGAAGAAGTGAGACCCAGTTA (p.Leu352delinsTyrGlnPheLeuMetGlyPheProGluLeuLysLysThrAsnIleGlnLeuTer)
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.108G>C (p.Ala36=) rs886062952
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr) rs1476919967
NM_152419.3(HGSNAT):c.1102A>T (p.Lys368Ter) rs954238515
NM_152419.3(HGSNAT):c.1107T>C (p.Pro369=)
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu)
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu)
NM_152419.3(HGSNAT):c.1116A>G (p.Glu372=)
NM_152419.3(HGSNAT):c.111del (p.Pro38fs)
NM_152419.3(HGSNAT):c.1125C>G (p.Ala375=)
NM_152419.3(HGSNAT):c.1125C>T (p.Ala375=)
NM_152419.3(HGSNAT):c.1128+8A>G rs371054148
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=) rs770462636
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=)
NM_152419.3(HGSNAT):c.1129-2A>T rs749568919
NM_152419.3(HGSNAT):c.1129-5C>T rs1220052687
NM_152419.3(HGSNAT):c.1129-7C>T
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu)
NM_152419.3(HGSNAT):c.1170del (p.Trp390fs) rs748387885
NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter)
NM_152419.3(HGSNAT):c.118+10C>A
NM_152419.3(HGSNAT):c.118+8C>G
NM_152419.3(HGSNAT):c.1182G>C (p.Leu394=)
NM_152419.3(HGSNAT):c.1191G>C (p.Leu397=)
NM_152419.3(HGSNAT):c.1224C>T (p.Phe408=)
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr)
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044
NM_152419.3(HGSNAT):c.1251-4C>T rs374882647
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His)
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs)
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143
NM_152419.3(HGSNAT):c.1275T>C (p.Ile425=) rs1586751999
NM_152419.3(HGSNAT):c.1290G>A (p.Lys430=)
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=) rs1018475767
NM_152419.3(HGSNAT):c.12G>T (p.Ala4=)
NM_152419.3(HGSNAT):c.1302C>T (p.Cys434=)
NM_152419.3(HGSNAT):c.1314T>C (p.Ala438=) rs776703067
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly)
NM_152419.3(HGSNAT):c.1326C>T (p.Ile442=)
NM_152419.3(HGSNAT):c.132A>G (p.Lys44=)
NM_152419.3(HGSNAT):c.1338G>C (p.Leu446=)
NM_152419.3(HGSNAT):c.133dup (p.Arg45fs)
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894
NM_152419.3(HGSNAT):c.1347C>T (p.Asp449=) rs752420375
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)
NM_152419.3(HGSNAT):c.1359C>T (p.Tyr453=)
NM_152419.3(HGSNAT):c.1371T>A (p.Ser457=)
NM_152419.3(HGSNAT):c.1377+14G>A
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428
NM_152419.3(HGSNAT):c.1377+7G>C
NM_152419.3(HGSNAT):c.1392C>A (p.Thr464=)
NM_152419.3(HGSNAT):c.1392C>T (p.Thr464=) rs767972481
NM_152419.3(HGSNAT):c.1401C>T (p.Ala467=)
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=) rs779611596
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
NM_152419.3(HGSNAT):c.1420C>G (p.Leu474Val)
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs)
NM_152419.3(HGSNAT):c.1440C>T (p.Ile480=)
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu)
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284
NM_152419.3(HGSNAT):c.144G>A (p.Glu48=)
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
NM_152419.3(HGSNAT):c.1464+1G>A rs398124545
NM_152419.3(HGSNAT):c.1464+9T>A
NM_152419.3(HGSNAT):c.1465-10T>C
NM_152419.3(HGSNAT):c.1465-14G>A
NM_152419.3(HGSNAT):c.1465-5T>C
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu) rs1554537586
NM_152419.3(HGSNAT):c.1477C>T (p.Leu493=)
NM_152419.3(HGSNAT):c.1479A>G (p.Leu493=)
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp) rs200238482
NM_152419.3(HGSNAT):c.1508dup (p.Leu504fs)
NM_152419.3(HGSNAT):c.150del (p.Met51fs)
NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) rs747240928
NM_152419.3(HGSNAT):c.1521C>T (p.Phe507=)
NM_152419.3(HGSNAT):c.1542+4dup rs1401818080
NM_152419.3(HGSNAT):c.1543-7A>G
NM_152419.3(HGSNAT):c.1545G>A (p.Gly515=)
NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn)
NM_152419.3(HGSNAT):c.1558G>A (p.Ala520Thr)
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592
NM_152419.3(HGSNAT):c.1613+8T>C
NM_152419.3(HGSNAT):c.1614-6T>C
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
NM_152419.3(HGSNAT):c.1617C>G (p.Ser539=)
NM_152419.3(HGSNAT):c.1617C>T (p.Ser539=) rs767625503
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) rs756310864
NM_152419.3(HGSNAT):c.1623G>A (p.Ser541=) rs372909374
NM_152419.3(HGSNAT):c.1629C>T (p.Val543=)
NM_152419.3(HGSNAT):c.1632T>C (p.Thr544=)
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys) rs377050184
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
NM_152419.3(HGSNAT):c.1635G>A (p.Thr545=) rs775897635
NM_152419.3(HGSNAT):c.1643C>T (p.Ser548Phe)
NM_152419.3(HGSNAT):c.1644T>A (p.Ser548=) rs1586758163
NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) rs1586698317
NM_152419.3(HGSNAT):c.1650C>T (p.Ala550=) rs1586758179
NM_152419.3(HGSNAT):c.1680T>G (p.Val560=)
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg) rs1563386838
NM_152419.3(HGSNAT):c.168A>G (p.Leu56=)
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988
NM_152419.3(HGSNAT):c.1698G>A (p.Leu566=)
NM_152419.3(HGSNAT):c.1700G>A (p.Trp567Ter)
NM_152419.3(HGSNAT):c.1704A>G (p.Thr568=)
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys)
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser)
NM_152419.3(HGSNAT):c.1727-17A>G
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058
NM_152419.3(HGSNAT):c.1752C>T (p.Val584=) rs200678234
NM_152419.3(HGSNAT):c.1755C>T (p.Gly585=)
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys) rs202128129
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys)
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr)
NM_152419.3(HGSNAT):c.1779C>T (p.Phe593=)
NM_152419.3(HGSNAT):c.1786C>T (p.Gln596Ter)
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg)
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys) rs867446205
NM_152419.3(HGSNAT):c.1803C>T (p.Asp601=)
NM_152419.3(HGSNAT):c.1805A>G (p.Asn602Ser)
NM_152419.3(HGSNAT):c.1815C>T (p.His605=)
NM_152419.3(HGSNAT):c.1821G>A (p.Glu607=)
NM_152419.3(HGSNAT):c.1836C>T (p.Asn612=)
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=)
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469
NM_152419.3(HGSNAT):c.1842C>A (p.Val614=)
NM_152419.3(HGSNAT):c.1842C>T (p.Val614=)
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.1845C>T (p.Ala615=)
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val)
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met)
NM_152419.3(HGSNAT):c.186T>C (p.Leu62=) rs1239460572
NM_152419.3(HGSNAT):c.1872C>T (p.Tyr624=)
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg)
NM_152419.3(HGSNAT):c.1907G>A (p.Ter636=)
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=) rs376924663
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245
NM_152419.3(HGSNAT):c.210C>T (p.Tyr70=)
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp)
NM_152419.3(HGSNAT):c.234+14C>G rs146429523
NM_152419.3(HGSNAT):c.234+1G>A rs483352908
NM_152419.3(HGSNAT):c.234+8T>A rs1205007842
NM_152419.3(HGSNAT):c.234C>T (p.His78=)
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg)
NM_152419.3(HGSNAT):c.240G>A (p.Leu80=)
NM_152419.3(HGSNAT):c.249T>C (p.Val83=)
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=)
NM_152419.3(HGSNAT):c.273A>G (p.Pro91=)
NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly)
NM_152419.3(HGSNAT):c.279A>C (p.Ala93=) rs766369405
NM_152419.3(HGSNAT):c.282G>A (p.Gly94=)
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)
NM_152419.3(HGSNAT):c.285G>A (p.Lys95=) rs752466254
NM_152419.3(HGSNAT):c.288T>C (p.Pro96=)
NM_152419.3(HGSNAT):c.294T>C (p.Ala98=)
NM_152419.3(HGSNAT):c.306T>C (p.Ser102=)
NM_152419.3(HGSNAT):c.315C>T (p.Thr105=)
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)
NM_152419.3(HGSNAT):c.321C>T (p.His107=) rs571883806
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg)
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro) rs765211666
NM_152419.3(HGSNAT):c.339G>A (p.Leu113=)
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.366T>G (p.Val122=)
NM_152419.3(HGSNAT):c.369T>C (p.Cys123=)
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) rs754875934
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
NM_152419.3(HGSNAT):c.372-2A>G rs483352896
NM_152419.3(HGSNAT):c.372-8G>A
NM_152419.3(HGSNAT):c.376G>T (p.Glu126Ter)
NM_152419.3(HGSNAT):c.386T>C (p.Phe129Ser)
NM_152419.3(HGSNAT):c.39G>C (p.Leu13=)
NM_152419.3(HGSNAT):c.405T>C (p.Tyr135=)
NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe)
NM_152419.3(HGSNAT):c.411C>G (p.Leu137=)
NM_152419.3(HGSNAT):c.411C>T (p.Leu137=)
NM_152419.3(HGSNAT):c.412T>C (p.Leu138=)
NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp)
NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser)
NM_152419.3(HGSNAT):c.453T>C (p.Cys151=)
NM_152419.3(HGSNAT):c.45G>A (p.Ala15=)
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys)
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala) rs369469113
NM_152419.3(HGSNAT):c.483T>C (p.Asp161=)
NM_152419.3(HGSNAT):c.48C>G (p.Ser16=)
NM_152419.3(HGSNAT):c.493+13T>A
NM_152419.3(HGSNAT):c.493+1G>A rs193066451
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
NM_152419.3(HGSNAT):c.494-4C>A
NM_152419.3(HGSNAT):c.495T>C (p.Pro165=)
NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr)
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser)
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met)
NM_152419.3(HGSNAT):c.543C>T (p.Ser181=)
NM_152419.3(HGSNAT):c.558G>A (p.Leu186=)
NM_152419.3(HGSNAT):c.559T>C (p.Leu187=)
NM_152419.3(HGSNAT):c.563+2T>A
NM_152419.3(HGSNAT):c.563+7T>C
NM_152419.3(HGSNAT):c.563+8A>G
NM_152419.3(HGSNAT):c.564-10T>A
NM_152419.3(HGSNAT):c.564-4dup
NM_152419.3(HGSNAT):c.564-8A>G
NM_152419.3(HGSNAT):c.576T>C (p.Phe192=) rs1563366828
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) rs1563366896
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=)
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn) rs367799225
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys)
NM_152419.3(HGSNAT):c.633+20G>C
NM_152419.3(HGSNAT):c.634-8T>A
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp)
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=)
NM_152419.3(HGSNAT):c.652A>C (p.Arg218=) rs541981232
NM_152419.3(HGSNAT):c.654G>A (p.Arg218=)
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly)
NM_152419.3(HGSNAT):c.664C>T (p.Leu222Phe)
NM_152419.3(HGSNAT):c.666C>T (p.Leu222=)
NM_152419.3(HGSNAT):c.667G>C (p.Asp223His)
NM_152419.3(HGSNAT):c.66G>A (p.Leu22=)
NM_152419.3(HGSNAT):c.672T>C (p.Gly224=)
NM_152419.3(HGSNAT):c.672T>G (p.Gly224=)
NM_152419.3(HGSNAT):c.675T>C (p.Asp225=)
NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter)
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu) rs200505085
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)
NM_152419.3(HGSNAT):c.682_740del (p.Pro228fs)
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815
NM_152419.3(HGSNAT):c.690G>A (p.Thr230=)
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)
NM_152419.3(HGSNAT):c.699A>G (p.Leu233=) rs756091468
NM_152419.3(HGSNAT):c.69G>A (p.Leu23=)
NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys) rs1586725294
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val)
NM_152419.3(HGSNAT):c.708G>A (p.Leu236=)
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152419.3(HGSNAT):c.711G>A (p.Pro237=)
NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu) rs1218261294
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
NM_152419.3(HGSNAT):c.720C>T (p.Leu240=)
NM_152419.3(HGSNAT):c.726C>T (p.Ser242=)
NM_152419.3(HGSNAT):c.72C>T (p.Ala24=)
NM_152419.3(HGSNAT):c.735C>G (p.Thr245=)
NM_152419.3(HGSNAT):c.739del (p.Arg247fs) rs1085307880
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094
NM_152419.3(HGSNAT):c.743+7G>A
NM_152419.3(HGSNAT):c.744-10C>A
NM_152419.3(HGSNAT):c.744-5_744-3del
NM_152419.3(HGSNAT):c.765C>T (p.Val255=) rs137963729
NM_152419.3(HGSNAT):c.768T>C (p.Phe256=)
NM_152419.3(HGSNAT):c.78C>T (p.Gly26=)
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)
NM_152419.3(HGSNAT):c.821-9G>T
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180
NM_152419.3(HGSNAT):c.837C>T (p.Asp279=) rs1277158595
NM_152419.3(HGSNAT):c.840C>T (p.Leu280=)
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met)
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152419.3(HGSNAT):c.849G>A (p.Pro283=)
NM_152419.3(HGSNAT):c.851+10C>T rs778394235
NM_152419.3(HGSNAT):c.851+9C>T
NM_152419.3(HGSNAT):c.852-1G>A rs1447092074
NM_152419.3(HGSNAT):c.852-2A>C rs755710040
NM_152419.3(HGSNAT):c.852-7T>G
NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys)
NM_152419.3(HGSNAT):c.87G>C (p.Ser29=) rs1461385635
NM_152419.3(HGSNAT):c.884_885insTATTTTTTTTTATTTTTTTNNNNNNNNNNTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCTTCCATTTTTCT (p.Ser296_Met297insIlePhePheTyrPhePheXaaXaaXaaXaaLeuAlaArgMetValSerIleSerTer)
NM_152419.3(HGSNAT):c.885A>G (p.Leu295=)
NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter) rs372933126
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)
NM_152419.3(HGSNAT):c.888G>A (p.Ser296=) rs780309535
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu) rs1490698793
NM_152419.3(HGSNAT):c.90G>C (p.Gly30=)
NM_152419.3(HGSNAT):c.90G>T (p.Gly30=)
NM_152419.3(HGSNAT):c.928T>C (p.Leu310=) rs1358940142
NM_152419.3(HGSNAT):c.933G>T (p.Leu311=)
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val)
NM_152419.3(HGSNAT):c.945A>G (p.Ala315=)
NM_152419.3(HGSNAT):c.951G>A (p.Arg317=)
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del) rs752374933
NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr)
NM_152419.3(HGSNAT):c.987G>C (p.Val329=)
NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)
NM_152419.3(HGSNAT):c.99C>G (p.Ala33=) rs1586689721

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