ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-A by Invitae

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ClinVar version:
Total variants: 267
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HGVS dbSNP
NC_000017.10:g.(?_78194005)_(78194132_?)del
NC_000017.11:g.(?_80213794)_(80215148_?)del
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1008T>C (p.Phe336=)
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998
NM_000199.5(SGSH):c.1050G>A (p.Pro350=) rs373992449
NM_000199.5(SGSH):c.1053G>A (p.Ala351=)
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1068C>G (p.Pro356=)
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
NM_000199.5(SGSH):c.1080C>T (p.Thr360=)
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1083C>G (p.Val361=)
NM_000199.5(SGSH):c.1095G>A (p.Gln365=)
NM_000199.5(SGSH):c.1104C>T (p.His368=) rs111800668
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg) rs1434209913
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu) rs746037899
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.5(SGSH):c.1140G>A (p.Gln380=)
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.1149C>T (p.His383=)
NM_000199.5(SGSH):c.1158C>T (p.Leu386=)
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu)
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del)
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655
NM_000199.5(SGSH):c.117G>T (p.Ala39=)
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805
NM_000199.5(SGSH):c.1185C>T (p.Pro395=)
NM_000199.5(SGSH):c.1194C>T (p.Ile398=) rs759758209
NM_000199.5(SGSH):c.1197C>T (p.Asp399=)
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405
NM_000199.5(SGSH):c.1210G>A (p.Val404Ile) rs191465934
NM_000199.5(SGSH):c.1215A>C (p.Ser405=)
NM_000199.5(SGSH):c.1221C>T (p.Thr407=) rs1598738043
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
NM_000199.5(SGSH):c.1241_1242dup (p.Thr415fs)
NM_000199.5(SGSH):c.1251T>C (p.Ala417=)
NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp)
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu) rs150222010
NM_000199.5(SGSH):c.1263G>A (p.Thr421=)
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His)
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.5(SGSH):c.129C>T (p.Ser43=)
NM_000199.5(SGSH):c.12C>A (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>G (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>T (p.Pro4=)
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699
NM_000199.5(SGSH):c.1320C>T (p.Asp440=)
NM_000199.5(SGSH):c.1323G>C (p.Arg441=) rs202209795
NM_000199.5(SGSH):c.1337A>G (p.His446Arg) rs148876719
NM_000199.5(SGSH):c.1338C>T (p.His446=) rs762208419
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1356C>T (p.Ala452=)
NM_000199.5(SGSH):c.1359C>T (p.Thr453=)
NM_000199.5(SGSH):c.135C>T (p.Ile45=)
NM_000199.5(SGSH):c.1365G>A (p.Pro455=)
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
NM_000199.5(SGSH):c.1380T>A (p.Leu460=)
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1383G>A (p.Leu461=)
NM_000199.5(SGSH):c.1386G>A (p.Glu462=)
NM_000199.5(SGSH):c.1395G>C (p.Arg465=)
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
NM_000199.5(SGSH):c.1410G>A (p.Lys470=)
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter)
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639
NM_000199.5(SGSH):c.1440G>A (p.Val480=)
NM_000199.5(SGSH):c.1443C>T (p.Cys481=) rs747742566
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.1449C>T (p.Pro483=) rs779836312
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971
NM_000199.5(SGSH):c.144G>T (p.Pro48=)
NM_000199.5(SGSH):c.1452C>T (p.Asp484=) rs763360021
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957
NM_000199.5(SGSH):c.1458C>T (p.Val486=)
NM_000199.5(SGSH):c.1467G>A (p.Glu489=)
NM_000199.5(SGSH):c.1473C>G (p.Leu491=)
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
NM_000199.5(SGSH):c.1500T>C (p.Asn500=)
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239
NM_000199.5(SGSH):c.154G>A (p.Ala52Thr)
NM_000199.5(SGSH):c.15G>C (p.Val5=)
NM_000199.5(SGSH):c.15G>T (p.Val5=)
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.195C>T (p.Thr65=)
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.222C>T (p.Arg74=) rs768056322
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.241C>T (p.Leu81=)
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
NM_000199.5(SGSH):c.24C>T (p.Cys8=)
NM_000199.5(SGSH):c.250-10T>C
NM_000199.5(SGSH):c.250-8G>T
NM_000199.5(SGSH):c.258T>C (p.Asn86=)
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg)
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702
NM_000199.5(SGSH):c.330G>A (p.Leu110=)
NM_000199.5(SGSH):c.355+9C>T
NM_000199.5(SGSH):c.356-6G>A rs764808311
NM_000199.5(SGSH):c.356-7C>T rs372328165
NM_000199.5(SGSH):c.363C>T (p.Ile121=)
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.36G>C (p.Leu12=)
NM_000199.5(SGSH):c.375C>T (p.His125=)
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
NM_000199.5(SGSH):c.37C>T (p.Leu13=)
NM_000199.5(SGSH):c.384G>A (p.Pro128=)
NM_000199.5(SGSH):c.390C>G (p.Thr130=)
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.397C>A (p.Pro133Thr) rs199643693
NM_000199.5(SGSH):c.399G>A (p.Pro133=)
NM_000199.5(SGSH):c.402dup (p.Asp135Ter) rs1598749984
NM_000199.5(SGSH):c.410C>T (p.Ala137Val)
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761
NM_000199.5(SGSH):c.417G>C (p.Thr139=)
NM_000199.5(SGSH):c.42C>T (p.Val14=) rs1598772270
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.435C>T (p.Val145=)
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg)
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter)
NM_000199.5(SGSH):c.474C>T (p.Leu158=)
NM_000199.5(SGSH):c.480G>T (p.Arg160=)
NM_000199.5(SGSH):c.486C>T (p.Phe162=)
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) rs1598749661
NM_000199.5(SGSH):c.506+10G>A rs549782167
NM_000199.5(SGSH):c.506+9C>G
NM_000199.5(SGSH):c.506+9C>T rs376523398
NM_000199.5(SGSH):c.507-10del
NM_000199.5(SGSH):c.507-6G>A rs751165124
NM_000199.5(SGSH):c.507-7C>T rs200965114
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455
NM_000199.5(SGSH):c.523G>A (p.Val175Ile)
NM_000199.5(SGSH):c.525C>T (p.Val175=)
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp) rs760996554
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly)
NM_000199.5(SGSH):c.532C>G (p.His178Asp) rs1598748596
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037
NM_000199.5(SGSH):c.540C>A (p.Pro180=) rs749721134
NM_000199.5(SGSH):c.545G>A (p.Arg182His)
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410
NM_000199.5(SGSH):c.555C>T (p.His185=)
NM_000199.5(SGSH):c.558C>T (p.Ser186=)
NM_000199.5(SGSH):c.564C>G (p.Pro188=)
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602
NM_000199.5(SGSH):c.597C>T (p.Asn199=)
NM_000199.5(SGSH):c.606C>T (p.Ser202=) rs544509805
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.630G>A (p.Trp210Ter)
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.633C>T (p.Thr211=)
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629
NM_000199.5(SGSH):c.642del (p.Tyr215fs)
NM_000199.5(SGSH):c.645C>T (p.Tyr215=)
NM_000199.5(SGSH):c.657C>T (p.Asp219=) rs756315850
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.660G>C (p.Val220=)
NM_000199.5(SGSH):c.663+10C>T
NM_000199.5(SGSH):c.663+17T>C rs6565647
NM_000199.5(SGSH):c.663+7C>T
NM_000199.5(SGSH):c.664-10C>T rs776319554
NM_000199.5(SGSH):c.664-7G>A
NM_000199.5(SGSH):c.66C>G (p.Pro22=)
NM_000199.5(SGSH):c.672C>T (p.Tyr224=)
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)
NM_000199.5(SGSH):c.684C>T (p.Asn228=) rs562717448
NM_000199.5(SGSH):c.687C>A (p.Thr229=) rs778017231
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser) rs756437160
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly) rs374621913
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891
NM_000199.5(SGSH):c.711C>T (p.Ala237=)
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile)
NM_000199.5(SGSH):c.726C>A (p.Thr242=)
NM_000199.5(SGSH):c.729C>T (p.Val243=)
NM_000199.5(SGSH):c.732C>A (p.Gly244=)
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.745+1G>C
NM_000199.5(SGSH):c.745+9G>A
NM_000199.5(SGSH):c.746-4A>G rs7218267
NM_000199.5(SGSH):c.746-5C>T
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610
NM_000199.5(SGSH):c.757del (p.Val253fs)
NM_000199.5(SGSH):c.759G>C (p.Val253=)
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566
NM_000199.5(SGSH):c.75A>G (p.Ala25=)
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202
NM_000199.5(SGSH):c.799C>T (p.Leu267=) rs1182273458
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466
NM_000199.5(SGSH):c.816C>T (p.Ser272=) rs200485062
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.822C>T (p.Asn274=)
NM_000199.5(SGSH):c.840C>T (p.Ser280=) rs146904798
NM_000199.5(SGSH):c.84C>T (p.Leu28=)
NM_000199.5(SGSH):c.852C>T (p.Asn284=)
NM_000199.5(SGSH):c.864G>A (p.Pro288=) rs573496328
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.5(SGSH):c.88+8C>T rs75720127
NM_000199.5(SGSH):c.88+9C>G
NM_000199.5(SGSH):c.88_88+67del
NM_000199.5(SGSH):c.89-10C>T rs766929408
NM_000199.5(SGSH):c.89-4G>A rs375536965
NM_000199.5(SGSH):c.89-5C>T rs755694982
NM_000199.5(SGSH):c.89-8T>G
NM_000199.5(SGSH):c.89-9C>T
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000199.5(SGSH):c.909A>G (p.Lys303=) rs746617014
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys) rs1598742412
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
NM_000199.5(SGSH):c.933C>T (p.Ala311=)
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426
NM_000199.5(SGSH):c.949+7C>T
NM_000199.5(SGSH):c.950-9C>T
NM_000199.5(SGSH):c.957G>A (p.Thr319=)
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
NM_000199.5(SGSH):c.96C>T (p.Asp32=) rs139850991
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
NM_000199.5(SGSH):c.987G>A (p.Pro329=)
NM_000199.5(SGSH):c.993C>T (p.Pro331=) rs934982826
NM_000199.5(SGSH):c.996C>T (p.Ser332=)
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346
NM_000199.5(SGSH):c.9C>T (p.Cys3=)

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