ClinVar Miner

List of variants reported for Mucolipidosis type II; Pseudo-Hurler polydystrophy by Counsyl

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.1283A>G (p.Lys428Arg) rs145281185 0.00009
NM_024312.5(GNPTAB):c.2900A>G (p.Gln967Arg) rs192687061 0.00009
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00006
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341 0.00005
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274 0.00002
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001 0.00002
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter) rs281864969 0.00001
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278 0.00001
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) rs34159654 0.00001
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser) rs137853822 0.00001
NM_024312.5(GNPTAB):c.1943G>A (p.Gly648Asp) rs373662553 0.00001
NM_024312.5(GNPTAB):c.1948G>A (p.Glu650Lys) rs779572693 0.00001
NM_024312.5(GNPTAB):c.1985C>T (p.Ala662Val) rs142172397 0.00001
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter) rs281865009 0.00001
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter) rs137852897 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024312.5(GNPTAB):c.1017_1020dup (p.Pro341fs) rs748809942
NM_024312.5(GNPTAB):c.1032del (p.Asn345fs) rs1555270321
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.1581del (p.Cys528fs) rs36007394
NM_024312.5(GNPTAB):c.1666ATT[1] (p.Ile557del) rs1555269798
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.1906dup (p.Arg636fs) rs747789493
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs) rs281864983
NM_024312.5(GNPTAB):c.1973TTC[1] (p.Leu659del) rs754722814
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.2550_2554del (p.Lys850fs) rs281864996
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs) rs281865029
NM_024312.5(GNPTAB):c.2617dup (p.Thr873fs) rs752874974
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del) rs281864999
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) rs281864999
NM_024312.5(GNPTAB):c.2706TCT[1] (p.Leu904del) rs774128798
NM_024312.5(GNPTAB):c.2727_2732del (p.Leu910_Lys911del) rs779351251
NM_024312.5(GNPTAB):c.2745_2750del (p.Tyr916_Phe917del) rs1277911354
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup) rs745600783
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs) rs281865018
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs) rs281864954
NM_024312.5(GNPTAB):c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp) rs1555268297
NM_024312.5(GNPTAB):c.3603G>A (p.Trp1201Ter) rs1555267839
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter) rs35333334
NM_024312.5(GNPTAB):c.366-2A>G rs1555271868
NM_024312.5(GNPTAB):c.3694-1G>C rs1297022622
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg) rs556318081
NM_024312.5(GNPTAB):c.39C>A (p.Cys13Ter) rs1555277081
NM_024312.5(GNPTAB):c.441del (p.Asn148fs) rs281864955
NM_024312.5(GNPTAB):c.616_619del (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

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