ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis, MPS-IV-A

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg) rs755832705 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln) rs754731091 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr) rs763184657 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn) rs373739301 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.121A>T (p.Met41Leu) rs1283377907 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1445C>T (p.Ala482Val) rs1909820489 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.1483-1G>A rs1223848239 0.00001
NM_000512.5(GALNS):c.1483-1G>C rs1223848239 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.184A>T (p.Met62Leu) rs1367462378 0.00001
NM_000512.5(GALNS):c.1A>G (p.Met1Val) rs771531650 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr) rs979373729 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.706C>T (p.His236Tyr) rs1228027865 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NC_000016.10:g.88779266_88827672del
NC_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NM_000512.5(GALNS):c.1003-1570G>T rs2142996885
NM_000512.5(GALNS):c.1003-2A>C rs1344555845
NM_000512.5(GALNS):c.1009del (p.His337fs) rs2142995881
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg) rs2142995871
NM_000512.5(GALNS):c.1046del (p.Ser349fs) rs2142995845
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro) rs1910973930
NM_000512.5(GALNS):c.1070del (p.Pro357fs) rs2142995810
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg) rs2142993896
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter) rs1426905479
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly) rs1967935882
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.1188del (p.Gln397fs) rs2142993827
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn) rs1967935603
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr) rs1267791852
NM_000512.5(GALNS):c.1196del (p.Lys399fs) rs2142993816
NM_000512.5(GALNS):c.121-1G>C rs1312522259
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter) rs2142993795
NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter) rs2142993793
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000512.5(GALNS):c.1242+1G>C
NM_000512.5(GALNS):c.1242+1G>T rs2142993764
NM_000512.5(GALNS):c.1243-1G>A rs1597535277
NM_000512.5(GALNS):c.1243-1G>C rs1597535277
NM_000512.5(GALNS):c.1243-2A>C rs2142992422
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1275del (p.Val427fs) rs2142992383
NM_000512.5(GALNS):c.1290_1291del (p.His430fs) rs2142992359
NM_000512.5(GALNS):c.1355dup (p.Leu454fs) rs1472489567
NM_000512.5(GALNS):c.1364+2_1364+15del
NM_000512.5(GALNS):c.1365-1G>A rs1909832718
NM_000512.5(GALNS):c.1365-2A>G
NM_000512.5(GALNS):c.1374dup (p.Ala459fs)
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter) rs2142982313
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser) rs1204485789
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1483-2A>C
NM_000512.5(GALNS):c.1483-2A>G rs2142967340
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr) rs948490589
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs) rs753053516
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys) rs1296755011
NM_000512.5(GALNS):c.1520G>A (p.Cys507Tyr)
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu) rs1348149236
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly) rs145798311
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr) rs1263679818
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.242C>T (p.Pro81Leu) rs2143005457
NM_000512.5(GALNS):c.245-2A>G rs1352162269
NM_000512.5(GALNS):c.245_248del
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter) rs1160480473
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly) rs118204441
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu) rs727503946
NM_000512.5(GALNS):c.285dup (p.Gly96fs)
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.290T>C (p.Phe97Ser)
NM_000512.5(GALNS):c.301A>G (p.Asn101Asp)
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
NM_000512.5(GALNS):c.347G>T (p.Gly116Val) rs1966945369
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter) rs911452920
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.385A>T (p.Lys129Ter) rs2143004624
NM_000512.5(GALNS):c.409_420del (p.Ile137_Lys140del) rs2143004592
NM_000512.5(GALNS):c.409_422+5del rs2143004580
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.422+1G>A rs1966940003
NM_000512.5(GALNS):c.422+1G>T rs1966940003
NM_000512.5(GALNS):c.422+2T>G rs2143004585
NM_000512.5(GALNS):c.423-1G>A rs2143002474
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000512.5(GALNS):c.424_566+1del rs2143002309
NM_000512.5(GALNS):c.425A>C (p.His142Pro) rs1288895691
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.425A>T (p.His142Leu) rs1288895691
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.433C>T (p.His145Tyr) rs577334837
NM_000512.5(GALNS):c.444_449del (p.Gln148_Phe149del) rs2143002451
NM_000512.5(GALNS):c.448C>T (p.His150Tyr) rs1168278189
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.473_477del (p.Glu158fs) rs2143002427
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr) rs768757999
NM_000512.5(GALNS):c.501dup (p.Gly168fs) rs2143002383
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter) rs775732598
NM_000512.5(GALNS):c.532_533del (p.Ile178fs) rs2143002345
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.554del (p.Glu185fs) rs2143002326
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.566+1G>A
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys) rs886042058
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp) rs2143001744
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr) rs569725936
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000512.5(GALNS):c.634-1G>A rs2143001463
NM_000512.5(GALNS):c.634-1G>T rs2143001463
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu) rs2143001453
NM_000512.5(GALNS):c.648_649insTGTGGCTCTCTCCATAGGAAGCCCTGGACTCCT (p.Phe216_Ile217insCysGlySerLeuHisArgLysProTrpThrPro)
NM_000512.5(GALNS):c.658C>T (p.Gln220Ter) rs1456807949
NM_000512.5(GALNS):c.666_667insTGTGGCTCTCTCCATAGGAAGCCCTGGACTCCT (p.Arg222_His223insCysGlySerLeuHisArgLysProTrpThrPro)
NM_000512.5(GALNS):c.675_676del (p.Phe227fs) rs2143001422
NM_000512.5(GALNS):c.679T>G (p.Phe227Val) rs2143001417
NM_000512.5(GALNS):c.680del (p.Phe227fs) rs2143001415
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.707A>C (p.His236Pro) rs398123441
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976
NM_000512.5(GALNS):c.759-2A>G rs2143001213
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter) rs770815269
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala) rs1912009292
NM_000512.5(GALNS):c.77dup (p.Ala27fs) rs2143013573
NM_000512.5(GALNS):c.791G>A (p.Ser264Asn) rs2143001182
NM_000512.5(GALNS):c.835del (p.Asp279fs)
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.892del (p.Glu298fs)
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter) rs2143001103
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp) rs776715466
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala) rs2142999186
NM_000512.5(GALNS):c.951dup (p.Met318fs) rs2142999166
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter) rs1911558912
NM_000512.5(GALNS):c.998G>A (p.Gly333Asp) rs1911555382
NM_000512.5(GALNS):c.[1097T>C;451C>A]
NM_000512.5:c.(1242+1_1243-1)_(1364+1_1365-1)del
NM_000512.5:c.567_1002dup

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