ClinVar Miner

List of variants reported as likely pathogenic for mucopolysaccharidosis type 4A by Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
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.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
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.1162G>A (p.Asp388Asn) rs373739301 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.1483-1G>A rs1223848239 0.00001
NM_000512.5(GALNS):c.1483-1G>C rs1223848239 0.00001
NM_000512.5(GALNS):c.1A>G (p.Met1Val) rs771531650 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 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.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
NC_000016.10:g.88779266_88827672del
NM_000512.5(GALNS):c.1003-2A>C rs1344555845
NM_000512.5(GALNS):c.1009del (p.His337fs) rs2142995881
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg) rs2142995871
NM_000512.5(GALNS):c.1046del (p.Ser349fs) rs2142995845
NM_000512.5(GALNS):c.1070del (p.Pro357fs) rs2142995810
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter) rs1426905479
NM_000512.5(GALNS):c.1188del (p.Gln397fs) rs2142993827
NM_000512.5(GALNS):c.1196del (p.Lys399fs) rs2142993816
NM_000512.5(GALNS):c.121-1G>C rs1312522259
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.1243-1G>A rs1597535277
NM_000512.5(GALNS):c.1243-1G>C rs1597535277
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.1365-1G>A rs1909832718
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.1483-2A>G rs2142967340
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.1567T>G (p.Ter523Glu) rs1348149236
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.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.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.319+2T>C rs2143005067
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.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.422+1G>A rs1966940003
NM_000512.5(GALNS):c.423-1G>A rs2143002474
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>T (p.His142Leu) rs1288895691
NM_000512.5(GALNS):c.433C>T (p.His145Tyr) rs577334837
NM_000512.5(GALNS):c.473_477del (p.Glu158fs) rs2143002427
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.554del (p.Glu185fs) rs2143002326
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr) 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.658C>T (p.Gln220Ter) rs1456807949
NM_000512.5(GALNS):c.680del (p.Phe227fs) rs2143001415
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.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.77dup (p.Ala27fs) rs2143013573
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter) rs2143001103
NM_000512.5(GALNS):c.899-2A>G rs1165218506
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:c.(1242+1_1243-1)_(1364+1_1365-1)del
NM_000512.5:c.567_1002dup

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