ClinVar Miner

List of variants in gene SGSH studied for Sanfilippo syndrome type A

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP
NC_000017.11:g.(?_80213794)_(80215148_?)del
NM_000199.5(SGSH):c.*1008C>T rs886053553
NM_000199.5(SGSH):c.*1078A>G rs886053552
NM_000199.5(SGSH):c.*1098G>A rs886053551
NM_000199.5(SGSH):c.*126G>A rs546128310
NM_000199.5(SGSH):c.*201A>T rs139066649
NM_000199.5(SGSH):c.*232T>C
NM_000199.5(SGSH):c.*309G>A rs566654466
NM_000199.5(SGSH):c.*315C>T rs2071148
NM_000199.5(SGSH):c.*369C>T rs886053557
NM_000199.5(SGSH):c.*378G>A
NM_000199.5(SGSH):c.*415A>G
NM_000199.5(SGSH):c.*452G>A rs886053556
NM_000199.5(SGSH):c.*459C>T
NM_000199.5(SGSH):c.*471G>A
NM_000199.5(SGSH):c.*499C>T rs886053555
NM_000199.5(SGSH):c.*501C>T rs377165572
NM_000199.5(SGSH):c.*506C>T
NM_000199.5(SGSH):c.*657C>T
NM_000199.5(SGSH):c.*69C>T rs576879796
NM_000199.5(SGSH):c.*712G>T
NM_000199.5(SGSH):c.*833A>G rs2012452
NM_000199.5(SGSH):c.*834A>G
NM_000199.5(SGSH):c.*840A>G rs709678
NM_000199.5(SGSH):c.*848C>G rs709677
NM_000199.5(SGSH):c.*855T>C rs1046832
NM_000199.5(SGSH):c.*890G>A
NM_000199.5(SGSH):c.*891A>G
NM_000199.5(SGSH):c.*93A>G
NM_000199.5(SGSH):c.*95A>T
NM_000199.5(SGSH):c.*978C>T rs886053554
NM_000199.5(SGSH):c.*994G>A
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del) rs1555620306
NM_000199.5(SGSH):c.1050G>A (p.Pro350=) rs373992449
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.1076C>T (p.Ala359Val) rs202150579
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg) rs1428699412
NM_000199.5(SGSH):c.1097del (p.Ser366fs) rs1598738720
NM_000199.5(SGSH):c.1104C>T (p.His368=) rs111800668
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640
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.1138C>T (p.Gln380Ter) rs1424242431
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.1147del (p.His383fs) rs1598738369
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
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.117G>A (p.Ala39=) rs201132655
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn) rs1598758001
NM_000199.5(SGSH):c.1194C>T (p.Ile398=) rs759758209
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser) rs1555623007
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.1225C>T (p.Gln409Ter) rs1323958195
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu) rs150222010
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser) rs886053559
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.1287_1289del (p.Tyr432del) rs1555620148
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.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
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.1318G>A (p.Asp440Asn) rs886053558
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
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.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp) rs754273400
NM_000199.5(SGSH):c.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815
NM_000199.5(SGSH):c.1443C>T (p.Cys481=) rs747742566
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
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.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.1462G>A (p.Glu488Lys) rs145645179
NM_000199.5(SGSH):c.1462_1464GAG[1] (p.Glu489del) rs1252944094
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter) rs1232231848
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239
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.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe) rs1555622928
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.216del (p.Ser73fs) rs1555622888
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.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
NM_000199.5(SGSH):c.250-15C>T
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs)
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006
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.28_37del (p.Cys9_Ala10insTer) rs1555624111
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.356-7C>T rs372328165
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.367_369AAG[1] (p.Lys124del) rs1555621974
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
NM_000199.5(SGSH):c.376dup (p.Val126fs) rs1555621971
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642
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.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.416C>T (p.Thr139Met) rs775112689
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
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.48_50dup (p.Leu17dup) rs1555624091
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+13G>T
NM_000199.5(SGSH):c.506+9C>T rs376523398
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.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.542A>G (p.His181Arg) rs776228545
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) rs1555624080
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460
NM_000199.5(SGSH):c.578T>C (p.Phe193Ser) rs1555621662
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
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.629G>A (p.Trp210Ter) rs886041370
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629
NM_000199.5(SGSH):c.657C>T (p.Asp219=) rs756315850
NM_000199.5(SGSH):c.658G>C (p.Val220Leu)
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.663+17T>C rs6565647
NM_000199.5(SGSH):c.664-1G>T rs1555621425
NM_000199.5(SGSH):c.664-36T>C rs35087113
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362
NM_000199.5(SGSH):c.676G>A (p.Val226Ile) rs145967352
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
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.689C>T (p.Pro230Leu) rs748671633
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.701C>G (p.Ala234Gly) rs113641837
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn) rs886053560
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.734G>A (p.Arg245His) rs104894635
NM_000199.5(SGSH):c.745+1G>C
NM_000199.5(SGSH):c.746-4A>G rs7218267
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610
NM_000199.5(SGSH):c.763del (p.Gln255fs) rs1555620827
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly)
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)
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.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.840C>T (p.Ser280=) rs146904798
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.89-10C>T rs766929408
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000199.5(SGSH):c.89-4G>A rs375536965
NM_000199.5(SGSH):c.89-5C>T rs755694982
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.911G>T (p.Arg304Leu) rs745884647
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys) rs1598742412
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878
NM_000199.5(SGSH):c.937_939dup (p.Val313dup) rs1555620723
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.952C>A (p.Leu318Ile)
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
NM_000199.5(SGSH):c.96C>T (p.Asp32=) rs139850991
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
NM_000199.5(SGSH):c.993C>T (p.Pro331=) rs934982826
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346
SGSH, 1-BP DEL, 1091C
SGSH, 11-BP DEL, NT1284
SGSH, 9-BP DEL, NT1307

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