ClinVar Miner

List of variants studied for Sanfilippo syndrome type A

Included ClinVar conditions (1):
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Total variants: 109
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HGVS dbSNP
NM_000199.3:c.1144_1145ins6 rs398123244
NM_000199.5(SGSH):c.-12_-10GCC[5] (p.Met1_Ser2insAla) rs1555624208
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
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.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)
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)
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu) rs746037899
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.1147del (p.His383fs)
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.118T>A (p.Tyr40Asn)
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser) rs1555623007
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu)
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del) rs1555620148
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.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)
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.1416G>C (p.Gln472His) rs1555620072
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs) rs1555620043
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile)
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.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.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189
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.268G>A (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.28_37del (p.Cys9_Ala10insTer) rs1555624111
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868
NM_000199.5(SGSH):c.356-1G>A rs1555621984
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.376dup (p.Val126fs) rs1555621971
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642
NM_000199.5(SGSH):c.402dup (p.Asp135Ter)
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro) rs749358773
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
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)
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp)
NM_000199.5(SGSH):c.532C>G (p.His178Asp)
NM_000199.5(SGSH):c.542A>G (p.His181Arg)
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
NM_000199.5(SGSH):c.54C>A (p.Cys18Ter) rs1555624080
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.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370
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.688C>T (p.Pro230Ser)
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly)
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891
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.763del (p.Gln255fs) rs1555620827
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu)
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys)
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp) rs753934983
NM_000199.5(SGSH):c.937_939dup (p.Val313dup) rs1555620723
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.3435-1G>A rs281865037
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) rs35878526
SGSH, 1-BP DEL, 1091C
SGSH, 11-BP DEL, NT1284
SGSH, 9-BP DEL, NT1307

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