ClinVar Miner

List of variants in gene GALNS studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 236
Download table as spreadsheet
HGVS dbSNP
GALNS, 1-BP DEL, 1374T
GALNS, 2-BP DEL, 1343CA
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_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NM_000512.4(GALNS):c.413T>C (p.Val138Ala) rs118204436
NM_000512.5(GALNS):c.*123G>C rs886052453
NM_000512.5(GALNS):c.*140C>A
NM_000512.5(GALNS):c.*144T>C
NM_000512.5(GALNS):c.*145C>T rs539285988
NM_000512.5(GALNS):c.*186C>G
NM_000512.5(GALNS):c.*197C>T
NM_000512.5(GALNS):c.*207G>T rs886052452
NM_000512.5(GALNS):c.*20C>G rs886052454
NM_000512.5(GALNS):c.*236C>T rs189375208
NM_000512.5(GALNS):c.*261T>G
NM_000512.5(GALNS):c.*263T>C rs886052451
NM_000512.5(GALNS):c.*270T>C
NM_000512.5(GALNS):c.*287T>C rs776880179
NM_000512.5(GALNS):c.*29A>C
NM_000512.5(GALNS):c.*387T>G
NM_000512.5(GALNS):c.*3C>G rs77826920
NM_000512.5(GALNS):c.*503T>G rs573836350
NM_000512.5(GALNS):c.*520C>A
NM_000512.5(GALNS):c.*523G>A
NM_000512.5(GALNS):c.*546C>T rs114447455
NM_000512.5(GALNS):c.*573A>G rs551511278
NM_000512.5(GALNS):c.*610G>T rs755706847
NM_000512.5(GALNS):c.*639T>G
NM_000512.5(GALNS):c.*656T>C
NM_000512.5(GALNS):c.*70T>C
NM_000512.5(GALNS):c.*86C>T
NM_000512.5(GALNS):c.*95T>A rs536448022
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898
NM_000512.5(GALNS):c.1002+17C>T rs78494153
NM_000512.5(GALNS):c.1003-10T>C rs753249472
NM_000512.5(GALNS):c.1003-42C>T rs139088253
NM_000512.5(GALNS):c.1005G>C (p.Val335=) rs772871566
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg)
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met)
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn)
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe)
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp)
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270
NM_000512.5(GALNS):c.1139+1G>A
NM_000512.5(GALNS):c.1140-15C>T
NM_000512.5(GALNS):c.1140-5C>T
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269
NM_000512.5(GALNS):c.1182C>A (p.Thr394=) rs1414082372
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975
NM_000512.5(GALNS):c.1192del (p.His398fs)
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr)
NM_000512.5(GALNS):c.120+1532G>C rs34150867
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1]) rs1567519128
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.121-4G>A rs200008960
NM_000512.5(GALNS):c.121-7C>G
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474
NM_000512.5(GALNS):c.1230G>A (p.Glu410=) rs567507214
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)
NM_000512.5(GALNS):c.1241dup (p.Ile416fs)
NM_000512.5(GALNS):c.1242+3A>G rs377067312
NM_000512.5(GALNS):c.1243-10C>G rs886052455
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187
NM_000512.5(GALNS):c.1279del (p.Val427fs)
NM_000512.5(GALNS):c.1336C>T (p.Arg446Trp) rs557217245
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg)
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.1364+8G>A rs368171136
NM_000512.5(GALNS):c.1365-1G>C
NM_000512.5(GALNS):c.1374C>T (p.Ser458=) rs534204869
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967
NM_000512.5(GALNS):c.1377C>T (p.Ala459=) rs757704061
NM_000512.5(GALNS):c.138C>T (p.Leu46=)
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter) rs118204439
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser) rs118204440
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
NM_000512.5(GALNS):c.1482+4A>G
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys)
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.1540A>G (p.Ile514Val)
NM_000512.5(GALNS):c.1551G>A (p.Lys517=)
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe) rs1597515354
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn)
NM_000512.5(GALNS):c.168C>G (p.Thr56=) rs368128023
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754
NM_000512.5(GALNS):c.205T>G (p.Phe69Val) rs118204445
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys)
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser)
NM_000512.5(GALNS):c.243A>G (p.Pro81=) rs759476855
NM_000512.5(GALNS):c.244+19C>T rs35137494
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly) rs118204441
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797
NM_000512.5(GALNS):c.320-1G>T
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627
NM_000512.5(GALNS):c.330G>A (p.Pro110=) rs374355420
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln) rs1177468816
NM_000512.5(GALNS):c.400G>A (p.Val134Ile) rs886052457
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.422+1G>T
NM_000512.5(GALNS):c.422+2T>G
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444
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)
NM_000512.5(GALNS):c.498del (p.Phe167fs) rs772656696
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.566+10C>T rs77514811
NM_000512.5(GALNS):c.566+5T>C rs3743545
NM_000512.5(GALNS):c.566+6G>A
NM_000512.5(GALNS):c.567-3C>T
NM_000512.5(GALNS):c.597G>A (p.Lys199=)
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
NM_000512.5(GALNS):c.604del (p.Glu202fs)
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.634-19G>A rs12934499
NM_000512.5(GALNS):c.634-20C>T rs17603837
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp) rs146963745
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) rs118204449
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr)
NM_000512.5(GALNS):c.711_714dup (p.Val239fs)
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
NM_000512.5(GALNS):c.759-67G>A
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442
NM_000512.5(GALNS):c.822C>T (p.Asp274=)
NM_000512.5(GALNS):c.828C>T (p.His276=) rs759216815
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749
NM_000512.5(GALNS):c.847G>A (p.Val283Ile)
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881
NM_000512.5(GALNS):c.885C>T (p.Ser295=)
NM_000512.5(GALNS):c.898+1G>A rs761850746
NM_000512.5(GALNS):c.898+1G>C rs761850746
NM_000512.5(GALNS):c.898+4A>G
NM_000512.5(GALNS):c.899-2A>C
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.899-4C>G rs143793386
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys) rs751446283
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp) rs1567526988
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn) rs377285422
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446
NM_000512.5(GALNS):c.952A>G (p.Met318Val) rs537013895
NM_000512.5(GALNS):c.952A>T (p.Met318Leu)
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro) rs1597559500
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
NM_000512.5(GALNS):c.988G>A (p.Val330Ile)
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
NM_000512.5(GALNS):c.[1097T>C;451C>A]

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