ClinVar Miner

List of variants in gene GNPTAB studied for I cell disease; Pseudo-Hurler polydystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP
NC_000012.11:g.(?_102224317)_(102224473_?)dup
NM_024312.4(GNPTAB):c.3449delT (p.Leu1150Argfs) rs1060499684
NM_024312.4:c.3498_3499ins9 rs1555268297
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs) rs748809942
NM_024312.5(GNPTAB):c.1021_1023del (p.Pro341del) rs1060499679
NM_024312.5(GNPTAB):c.1032del (p.Asn345fs) rs1555270321
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter) rs397507447
NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln)
NM_024312.5(GNPTAB):c.1144A>C (p.Thr382Pro) rs112543062
NM_024312.5(GNPTAB):c.117+1G>T
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) rs281865026
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg) rs145281185
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser) rs137853822
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter) rs78347057
NM_024312.5(GNPTAB):c.1389_1390del (p.Trp463_Asp464delinsTer) rs1555270066
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs) rs397507448
NM_024312.5(GNPTAB):c.1408+1G>T rs1060499680
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024312.5(GNPTAB):c.153_156TTTG[1] (p.Phe53fs) rs794727302
NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp) rs749452608
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1600G>A (p.Asp534Asn) rs750240374
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799
NM_024312.5(GNPTAB):c.1666_1668ATT[1] (p.Ile557del) rs1555269798
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter) rs281864982
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro) rs143788461
NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu) rs1555269734
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val)
NM_024312.5(GNPTAB):c.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys) rs779572693
NM_024312.5(GNPTAB):c.1955_1958TAGT[1] (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.1973_1975TTC[1] (p.Leu659del) rs754722814
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val) rs142172397
NM_024312.5(GNPTAB):c.203+2T>C
NM_024312.5(GNPTAB):c.204-1G>C rs748389002
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) rs34901902
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer) rs281864992
NM_024312.5(GNPTAB):c.2369_2370del (p.Phe790fs) rs1060499685
NM_024312.5(GNPTAB):c.2455del (p.Glu819fs)
NM_024312.5(GNPTAB):c.2545_2549GAAAA[1] (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2545_2549GAAAA[3] (p.Ile852fs) rs281864996
NM_024312.5(GNPTAB):c.2572_2573GA[1] (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2614del (p.Val872fs) rs1060499681
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs) rs752874974
NM_024312.5(GNPTAB):c.2675dup (p.Leu892fs) rs1555269488
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del) rs281864999
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2706_2708TCT[1] (p.Leu904del) rs774128798
NM_024312.5(GNPTAB):c.2715+1G>A rs281865031
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del) rs779351251
NM_024312.5(GNPTAB):c.272A>G (p.Lys91Arg)
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del) rs1277911354
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061
NM_024312.5(GNPTAB):c.2947_2954dup (p.Arg986fs) rs1555269154
NM_024312.5(GNPTAB):c.2956C>T (p.Arg986Cys) rs769587233
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009
NM_024312.5(GNPTAB):c.3250-10_3335+112dup rs1555268712
NM_024312.5(GNPTAB):c.3250-1_3250delinsAT rs1060499687
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.3336-1G>A rs397507562
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter) rs142065232
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup) rs745600783
NM_024312.5(GNPTAB):c.342_343CA[1] (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3439_3442TTTG[1] (p.Val1148fs) rs281865018
NM_024312.5(GNPTAB):c.3501_3502TC[1] (p.Leu1168fs) rs34002892
NM_024312.5(GNPTAB):c.3539C>T (p.Ser1180Phe) rs1060499689
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124
NM_024312.5(GNPTAB):c.3575T>C (p.Phe1192Ser) rs1060499688
NM_024312.5(GNPTAB):c.366-2A>G rs1555271868
NM_024312.5(GNPTAB):c.378dup (p.Glu127fs) rs1555271865
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter) rs1555277081
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024312.5(GNPTAB):c.571G>A (p.Val191Ile) rs751953529
NM_024312.5(GNPTAB):c.612_615ACAG[1] (p.Thr206fs) rs281865024
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs) rs281864963
NM_024312.5(GNPTAB):c.771+1G>C rs1555271217
NM_024312.5(GNPTAB):c.771+2T>A rs1555271215
NM_024312.5(GNPTAB):c.804del (p.Leu268_Leu269insTer) rs1555270428
NM_024312.5(GNPTAB):c.933+1G>T rs1327876395
NM_024312.5(GNPTAB):c.99del (p.Ala34fs) rs1408113895

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.