ClinVar Miner

List of variants reported as 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: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755 0.00004
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326 0.00003
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429 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.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter) rs767131589 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 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.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 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.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 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.551G>A (p.Trp184Ter) rs779545826 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226 0.00001
NM_000512.5(GALNS):c.898+1G>A rs761850746 0.00001
NM_000512.5(GALNS):c.899-1G>C rs745523154 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NC_000016.10:g.(88810557_88811549)_(88841972_88842705)del
NC_000016.10:g.(?_88813734)_(88841972_88842705)del
NC_000016.10:g.(?_88813734)_(88856758_?)del
NC_000016.10:g.88770428_88832724del
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1114del (p.Leu372fs) rs2142995760
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter) rs761455237
NM_000512.5(GALNS):c.1139+1G>A rs765608680
NM_000512.5(GALNS):c.1142del (p.Pro381fs) rs746086649
NM_000512.5(GALNS):c.1168del (p.Thr389_Leu390insTer) rs2142993865
NM_000512.5(GALNS):c.1177_1178insT (p.Ala393fs) rs2142993846
NM_000512.5(GALNS):c.1192del (p.His398fs) rs1910636198
NM_000512.5(GALNS):c.120+1G>A rs911877265
NM_000512.5(GALNS):c.120+1G>C rs911877265
NM_000512.5(GALNS):c.121-1G>A rs1312522259
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.1259del (p.Pro420fs) rs2142992407
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter) rs1295162107
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter) rs118204439
NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter) rs1330564240
NM_000512.5(GALNS):c.235_236del (p.Cys79fs) rs2143005467
NM_000512.5(GALNS):c.244+1G>T rs2143005452
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter) rs1967945316
NM_000512.5(GALNS):c.334del (p.Glu112fs) rs2143004665
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) rs1444754604
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.422+2_422+8del rs764529662
NM_000512.5(GALNS):c.442C>T (p.Gln148Ter) rs2143002464
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.567-1G>T rs143428106
NM_000512.5(GALNS):c.604del (p.Glu202fs) rs1382823339
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.689G>A (p.Trp230Ter) rs118204449
NM_000512.5(GALNS):c.708del (p.His236fs) rs2143001400
NM_000512.5(GALNS):c.758+1G>C rs1363382746
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del) rs1567530426
NM_000512.5(GALNS):c.85C>T (p.Gln29Ter) rs1287332192
NM_000512.5(GALNS):c.863del (p.Asp288fs) rs2143001135
NM_000512.5(GALNS):c.874del (p.Ala292fs) rs2143001121
NM_000512.5(GALNS):c.899-397_1003-1862del
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.