ClinVar Miner

List of variants in gene GALNS reported as pathogenic for mucopolysaccharidosis type 4A

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
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.415G>A (p.Gly139Ser) rs146093755 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys) rs886039377 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326 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.1157G>A (p.Arg386His) rs1221167717 0.00002
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429 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.498del (p.Phe167fs) rs772656696 0.00002
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs) rs1468285336 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys) rs759590432 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.1012C>T (p.Gln338Ter) rs767131589 0.00001
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn) rs373739301 0.00001
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162 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.1240C>T (p.Gln414Ter) rs757870208 0.00001
NM_000512.5(GALNS):c.1319del (p.Leu440fs) rs1567517083 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 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.320-1G>T rs1245504167 0.00001
NM_000512.5(GALNS):c.376G>T (p.Glu126Ter) rs1177468816 0.00001
NM_000512.5(GALNS):c.422G>A (p.Trp141Ter) rs746862066 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.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.551G>A (p.Trp184Ter) rs779545826 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111 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.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.898+1G>A rs761850746 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000512.5(GALNS):c.899-1G>C rs745523154 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NC_000016.10:g.(?_88822569)_(88842849_?)del
NC_000016.10:g.(?_88826682)_(88826858_?)del
NC_000016.10:g.(?_88837602)_(88842849_?)del
NC_000016.10:g.(?_88840972)_(88842849_?)del
NC_000016.10:g.88832102del rs2142999219
NC_000016.9:g.(?_88880847)_(88880953_?)del
NC_000016.9:g.(?_88880847)_(88884552_?)del
NC_000016.9:g.(?_88880847)_(88893266_?)del
NC_000016.9:g.(?_88880847)_(88898529_?)del
NC_000016.9:g.(?_88884395)_(88909257_?)del
NC_000016.9:g.(?_88888977)_(88898676_?)del
NC_000016.9:g.(?_88898386)_(88909257_?)del
NC_000016.9:g.(?_88901601)_(88923285_?)del
NC_000016.9:g.(?_88907380)_(88923285_?)del
NC_000016.9:g.(?_88908285)_(88909257_?)del
NC_000016.9:g.(?_88923146)_(88923285_?)del
NM_000512.4(GALNS):c.413T>C (p.Val138Ala) rs118204436
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)
NM_000512.5(GALNS):c.1070del (p.Pro357fs) rs2142995810
NM_000512.5(GALNS):c.1114del (p.Leu372fs) rs2142995760
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter) rs761455237
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly) rs770908172
NM_000512.5(GALNS):c.1139+1G>A rs765608680
NM_000512.5(GALNS):c.1139+2T>C
NM_000512.5(GALNS):c.1142del (p.Pro381fs) rs746086649
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter) rs1426905479
NM_000512.5(GALNS):c.1168del (p.Thr389_Leu390insTer) rs2142993865
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro) rs2142993863
NM_000512.5(GALNS):c.1177_1178insT (p.Ala393fs) rs2142993846
NM_000512.5(GALNS):c.1192del (p.His398fs) rs1910636198
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg) rs1267791852
NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter) rs2142993804
NM_000512.5(GALNS):c.121-1G>A rs1312522259
NM_000512.5(GALNS):c.121-1G>T rs1312522259
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.121-2_121-1insTGCATTTGCTGGCATA
NM_000512.5(GALNS):c.121-338_244+1del
NM_000512.5(GALNS):c.1241dup (p.Ile416fs) rs1910631809
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1259del (p.Pro420fs) rs2142992407
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter) rs1295162107
NM_000512.5(GALNS):c.1279del (p.Val427fs) rs2142992372
NM_000512.5(GALNS):c.1289dup (p.His430fs)
NM_000512.5(GALNS):c.1290_1291del (p.His430fs) rs2142992359
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs)
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs)
NM_000512.5(GALNS):c.1333G>T (p.Gly445Ter)
NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947
NM_000512.5(GALNS):c.1488G>A (p.Trp496Ter)
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.1515del (p.Lys506fs)
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg) rs1567509070
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.1568A>G (p.Ter523Trp) rs2142966615
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)
NM_000512.5(GALNS):c.205T>G (p.Phe69Val) rs118204445
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys) rs147599478
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.235_236del (p.Cys79fs) rs2143005467
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.244+1G>T rs2143005452
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu) rs141340188
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.283A>G (p.Asn95Asp)
NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.320-1G>C rs1245504167
NM_000512.5(GALNS):c.334del (p.Glu112fs) rs2143004665
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) rs1444754604
NM_000512.5(GALNS):c.347G>T (p.Gly116Val) rs1966945369
NM_000512.5(GALNS):c.364C>T (p.Gln122Ter)
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.374del (p.Pro125fs)
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.422+2_422+8del rs764529662
NM_000512.5(GALNS):c.423-11_425del
NM_000512.5(GALNS):c.423-1G>A rs2143002474
NM_000512.5(GALNS):c.442C>T (p.Gln148Ter) rs2143002464
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.472G>T (p.Glu158Ter) rs2143002428
NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser) rs761725425
NM_000512.5(GALNS):c.493_531del (p.Cys165_Asn177del)
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698
NM_000512.5(GALNS):c.510T>A (p.Tyr170Ter)
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.552G>A (p.Trp184Ter)
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.567-1G>T rs143428106
NM_000512.5(GALNS):c.570T>G (p.Tyr190Ter)
NM_000512.5(GALNS):c.604del (p.Glu202fs) rs1382823339
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.627C>G (p.Tyr209Ter) rs2143001706
NM_000512.5(GALNS):c.631C>T (p.Gln211Ter) rs1912124497
NM_000512.5(GALNS):c.675dup (p.Phe226fs)
NM_000512.5(GALNS):c.680del (p.Phe227fs) rs2143001415
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) rs118204449
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.708del (p.His236fs) rs2143001400
NM_000512.5(GALNS):c.711_714dup (p.Val239fs) rs2143001391
NM_000512.5(GALNS):c.715G>T (p.Val239Phe) rs145131011
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys) rs2143001380
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976
NM_000512.5(GALNS):c.758+1G>A rs1363382746
NM_000512.5(GALNS):c.758+1G>C rs1363382746
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys) rs2143001210
NM_000512.5(GALNS):c.762T>G (p.Tyr254Ter)
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter) rs2143001165
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del) rs1567530426
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.863del (p.Asp288fs) rs2143001135
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387
NM_000512.5(GALNS):c.874del (p.Ala292fs) rs2143001121
NM_000512.5(GALNS):c.892G>T (p.Glu298Ter) rs767319971
NM_000512.5(GALNS):c.898+2T>A
NM_000512.5(GALNS):c.899-1G>T
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000512.5(GALNS):c.899-397_1003-1862del
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser) rs2142999186
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696
NM_000512.5(GALNS):c.952A>G (p.Met318Val) rs537013895
NM_000512.5(GALNS):c.974G>A (p.Trp325Ter) rs2142999142
NM_000512.5(GALNS):c.[1140-730_1365-1530del;121-2779_567-248del]
NM_000512.5:c.(120+1_121-1)_(244+1_245-1)del
NM_000512.5:c.(1364+1_1365-1)_(1482+1_1483-1)del
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)del

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