ClinVar Miner

List of variants in gene SGSH reported as pathogenic for Mucopolysaccharidosis, MPS-III-A

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Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000199.5(SGSH):c.703G>A (p.Asp235Asn) rs753472891 0.00005
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys) rs772311757 0.00004
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913 0.00003
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000199.5(SGSH):c.1167C>A (p.Asn389Lys) rs764057581 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) rs104894642 0.00002
NM_000199.5(SGSH):c.1093C>T (p.Gln365Ter) rs1459579613 0.00001
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640 0.00001
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1225C>T (p.Gln409Ter) rs1323958195 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000199.5(SGSH):c.1429del (p.Asp477fs) rs781572815 0.00001
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006 0.00001
NM_000199.5(SGSH):c.302T>C (p.Phe101Ser) rs1211675075 0.00001
NM_000199.5(SGSH):c.376dup (p.Val126fs) rs1555621971 0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.545G>A (p.Arg182His) rs372911015 0.00001
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg) rs753666460 0.00001
NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) rs1555621659 0.00001
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter) rs886041370 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NC_000017.10:g.(?_78184251)_(78188957_?)del
NC_000017.10:g.(?_78184251)_(78194112_?)del
NC_000017.10:g.(?_78188510)_(78190896_?)del
NC_000017.10:g.(?_78193958)_(78194112_?)del
NC_000017.10:g.(?_78194005)_(78194112_?)del
NC_000017.10:g.(?_78194005)_(78194132_?)del
NC_000017.11:g.(?_80213794)_(80215148_?)del
NC_000017.11:g.80215136_80215141del
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1091_1103del (p.Ser364fs) rs1567915763
NM_000199.5(SGSH):c.1130G>A (p.Arg377His) rs746037899
NM_000199.5(SGSH):c.1131del (p.Ser378fs)
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.His381_Arg382insGlnArg) rs398123244
NM_000199.5(SGSH):c.1153del (p.Arg385fs) rs2041615714
NM_000199.5(SGSH):c.120C>A (p.Tyr40Ter)
NM_000199.5(SGSH):c.120C>G (p.Tyr40Ter)
NM_000199.5(SGSH):c.1241_1242dup (p.Thr415fs) rs1484648912
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs) rs1412408576
NM_000199.5(SGSH):c.1260del (p.Thr421fs)
NM_000199.5(SGSH):c.1265dup (p.Trp423fs)
NM_000199.5(SGSH):c.1268G>A (p.Trp423Ter)
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1276del (p.Asp426fs)
NM_000199.5(SGSH):c.1286del (p.His429fs)
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.1308G>A (p.Trp436Ter) rs1555620141
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
NM_000199.5(SGSH):c.1336del (p.His446fs)
NM_000199.5(SGSH):c.1345C>T (p.Gln449Ter)
NM_000199.5(SGSH):c.1345del (p.Gln449fs) rs1466245913
NM_000199.5(SGSH):c.1375C>T (p.Gln459Ter) rs1567914459
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1412G>A (p.Trp471Ter) rs2144689256
NM_000199.5(SGSH):c.1417del (p.Trp473fs)
NM_000199.5(SGSH):c.1418G>A (p.Trp473Ter)
NM_000199.5(SGSH):c.1426del (p.His476fs) rs2041597805
NM_000199.5(SGSH):c.178_234del (p.Phe60_Leu78del)
NM_000199.5(SGSH):c.198_214del (p.Val67fs)
NM_000199.5(SGSH):c.220C>A (p.Arg74Ser)
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.221G>T (p.Arg74Leu)
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro) rs779703983
NM_000199.5(SGSH):c.250-289_463del rs2144748721
NM_000199.5(SGSH):c.265_269del (p.Tyr89fs) rs2041840084
NM_000199.5(SGSH):c.267C>A (p.Tyr89Ter) rs1479456289
NM_000199.5(SGSH):c.268G>C (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.277C>T (p.Gln93Ter)
NM_000199.5(SGSH):c.282_283dup (p.Val95fs) rs2144754863
NM_000199.5(SGSH):c.301_303del (p.Phe101del)
NM_000199.5(SGSH):c.303C>A (p.Phe101Leu) rs150482611
NM_000199.5(SGSH):c.324dup (p.Leu109fs)
NM_000199.5(SGSH):c.356-1G>A rs1555621984
NM_000199.5(SGSH):c.364G>C (p.Gly122Arg)
NM_000199.5(SGSH):c.364G>T (p.Gly122Trp)
NM_000199.5(SGSH):c.389_392del (p.Thr130fs)
NM_000199.5(SGSH):c.391del (p.Val131fs)
NM_000199.5(SGSH):c.398del (p.Pro133fs) rs2144749648
NM_000199.5(SGSH):c.402dup (p.Asp135Ter) rs1598749984
NM_000199.5(SGSH):c.418G>T (p.Glu140Ter) rs2144749282
NM_000199.5(SGSH):c.466A>T (p.Lys156Ter) rs2041818115
NM_000199.5(SGSH):c.481A>T (p.Lys161Ter)
NM_000199.5(SGSH):c.48del (p.Leu17fs)
NM_000199.5(SGSH):c.490C>T (p.Gln164Ter) rs1598749661
NM_000199.5(SGSH):c.496C>T (p.Gln166Ter)
NM_000199.5(SGSH):c.506+1G>A rs763063355
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000199.5(SGSH):c.542A>G (p.His181Arg) rs776228545
NM_000199.5(SGSH):c.544dup (p.Arg182fs)
NM_000199.5(SGSH):c.578T>C (p.Phe193Ser) rs1555621662
NM_000199.5(SGSH):c.578_579delinsAA (p.Phe193Ter)
NM_000199.5(SGSH):c.598G>T (p.Gly200Ter)
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643
NM_000199.5(SGSH):c.630G>A (p.Trp210Ter) rs373031930
NM_000199.5(SGSH):c.637dup (p.Gln213fs) rs2144742329
NM_000199.5(SGSH):c.642del (p.Tyr215fs) rs2144742222
NM_000199.5(SGSH):c.645C>A (p.Tyr215Ter)
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.691_698del (p.Ala231fs)
NM_000199.5(SGSH):c.693_705del (p.Ala232fs) rs2041772144
NM_000199.5(SGSH):c.714del (p.Gln239fs)
NM_000199.5(SGSH):c.716A>G (p.Gln239Arg) rs1352066127
NM_000199.5(SGSH):c.745+1G>C rs748525651
NM_000199.5(SGSH):c.745G>T (p.Gly249Ter)
NM_000199.5(SGSH):c.757del (p.Val253fs) rs760281672
NM_000199.5(SGSH):c.763C>T (p.Gln255Ter)
NM_000199.5(SGSH):c.763del (p.Gln255fs) rs1555620827
NM_000199.5(SGSH):c.790_794delinsGCCAGAAGCGGGGGGAGGGGGGGGGTTTGGTGGAAATTTTTTGTTATGATGTCTGTGTGGAAAGCGGCTGTGCAGACATTCAATTGTTATTATTATGTCCTACAAGCATTAATTAATTAACACACTTTAGTAGGTATGTTCGCCTGTAATATTGAACGTAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asn264_Asp265delinsAlaArgSerGlyGlyArgGlyGlyValTrpTrpLysPhePheValMetMetSerValTrpLysAlaAlaValGlnThrPheAsnCysTyrTyrTyrValLeuGlnAlaLeuIleAsnTer)
NM_000199.5(SGSH):c.794_795insAGGTGCGATAAATAATAGGATGAGGCAGGAATCAAAGACAGATACTGCGACATAGGGTGCTCCGG (p.Asp265delinsGluGlyAlaIleAsnAsnArgMetArgGlnGluSerLysThrAspThrAlaThrTer)
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000199.5(SGSH):c.826_841del (p.Ile276fs)
NM_000199.5(SGSH):c.833_834del (p.Phe278fs)
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000199.5(SGSH):c.909del (p.Lys303fs) rs775136193
NM_000199.5(SGSH):c.915G>A (p.Trp305Ter)
NM_000199.5(SGSH):c.949+1G>A

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