ClinVar Miner

List of variants studied for mucopolysaccharidosis type 4A by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_000512.5(GALNS):c.*36G>A rs11076715 0.23846
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_000512.5(GALNS):c.1483-32G>C rs11076716 0.19802
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.244+49C>T rs13334220 0.05168
NM_000512.5(GALNS):c.898+42G>C rs76095307 0.05085
NM_000512.5(GALNS):c.758+22C>T rs78317153 0.04917
NM_000512.5(GALNS):c.898+25C>G rs113936280 0.04554
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967 0.03559
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_000512.5(GALNS):c.566+10C>T rs77514811 0.01544
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187 0.01075
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_000512.5(GALNS):c.-68C>T rs144789309 0.01019
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_000512.5(GALNS):c.566+5T>C rs3743545 0.00118
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000512.5(GALNS):c.1482+4A>G rs377407678 0.00026
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658 0.00009
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.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 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.1070C>T (p.Pro357Leu) rs769748679 0.00003
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys) rs886039377 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.1108C>T (p.Pro370Ser) rs749891007 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.498del (p.Phe167fs) rs772656696 0.00002
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp) rs146963745 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 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.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.1240C>T (p.Gln414Ter) rs757870208 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe) rs398123433 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 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.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.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.567-3C>T rs549597016 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.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000512.5(GALNS):c.898+1G>A rs761850746 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg) rs556060696 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
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.1139+1G>A rs765608680
NM_000512.5(GALNS):c.1192del (p.His398fs) rs1910636198
NM_000512.5(GALNS):c.120+1G>C rs911877265
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
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.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) rs1444754604
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.604del (p.Glu202fs) rs1382823339
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) rs118204449
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
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.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys) rs751446283
NM_000512.5(GALNS):c.916T>G (p.Phe306Val) rs2142999207
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn) rs377285422
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro) rs1597559500

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