ClinVar Miner

List of variants in gene GNPTAB reported as uncertain significance for Mucolipidosis type II; Pseudo-Hurler polydystrophy

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Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_024312.5(GNPTAB):c.500T>A (p.Ile167Asn) rs143907628 0.00049
NM_024312.5(GNPTAB):c.1429T>G (p.Tyr477Asp) rs145586576 0.00025
NM_024312.5(GNPTAB):c.2715C>T (p.Asp905=) rs374249911 0.00011
NM_024312.5(GNPTAB):c.3158T>C (p.Met1053Thr) rs150160103 0.00010
NM_024312.5(GNPTAB):c.3700G>A (p.Ala1234Thr) rs373314316 0.00010
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.1960A>G (p.Ser654Gly) rs151209875 0.00008
NM_024312.5(GNPTAB):c.2705A>G (p.Asp902Gly) rs375156660 0.00007
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024312.5(GNPTAB):c.1778A>T (p.Asn593Ile) rs188192351 0.00006
NM_024312.5(GNPTAB):c.1885A>G (p.Ile629Val) rs374265672 0.00006
NM_024312.5(GNPTAB):c.337A>G (p.Lys113Glu) rs140656599 0.00006
NM_024312.5(GNPTAB):c.793A>G (p.Ser265Gly) rs779150416 0.00006
NM_024312.5(GNPTAB):c.203G>A (p.Arg68Gln) rs145725972 0.00004
NM_024312.5(GNPTAB):c.1030C>T (p.Arg344Trp) rs1480305030 0.00003
NM_024312.5(GNPTAB):c.1124G>A (p.Arg375Gln) rs745438711 0.00003
NM_024312.5(GNPTAB):c.1801A>G (p.Ile601Val) rs1406478775 0.00003
NM_024312.5(GNPTAB):c.580G>A (p.Ala194Thr) rs767422341 0.00003
NM_024312.5(GNPTAB):c.772T>C (p.Leu258=) rs1042427154 0.00003
NM_024312.5(GNPTAB):c.1669A>C (p.Ile557Leu) rs142025274 0.00002
NM_024312.5(GNPTAB):c.1856A>G (p.Asn619Ser) rs746584582 0.00002
NM_024312.5(GNPTAB):c.512C>T (p.Ala171Val) rs746860631 0.00002
NM_024312.5(GNPTAB):c.1031G>A (p.Arg344Gln) rs1594219189 0.00001
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser) rs137853822 0.00001
NM_024312.5(GNPTAB):c.1468G>A (p.Gly490Arg) rs751461873 0.00001
NM_024312.5(GNPTAB):c.1570A>G (p.Asn524Asp) rs749452608 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.2119G>A (p.Ala707Thr) rs376620571 0.00001
NM_024312.5(GNPTAB):c.215C>T (p.Pro72Leu) rs755156585 0.00001
NM_024312.5(GNPTAB):c.229G>A (p.Val77Ile) rs985184620 0.00001
NM_024312.5(GNPTAB):c.2419C>T (p.Pro807Ser) rs745952026 0.00001
NM_024312.5(GNPTAB):c.2451A>T (p.Arg817Ser) rs754852059 0.00001
NM_024312.5(GNPTAB):c.257A>C (p.Asp86Ala) rs763827719 0.00001
NM_024312.5(GNPTAB):c.259C>T (p.Leu87Phe) rs1868888946 0.00001
NM_024312.5(GNPTAB):c.2715+3A>G rs766588869 0.00001
NM_024312.5(GNPTAB):c.272A>G (p.Lys91Arg) rs752519391 0.00001
NM_024312.5(GNPTAB):c.2897T>C (p.Met966Thr) rs760807924 0.00001
NM_024312.5(GNPTAB):c.3089T>C (p.Ile1030Thr) rs752836561 0.00001
NM_024312.5(GNPTAB):c.3148C>A (p.Leu1050Met) rs1402805700 0.00001
NM_024312.5(GNPTAB):c.3265A>T (p.Ser1089Cys) rs766107961 0.00001
NM_024312.5(GNPTAB):c.3435G>A (p.Arg1145=) rs1451696033 0.00001
NM_024312.5(GNPTAB):c.3525G>T (p.Met1175Ile) rs772131427 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024312.5(GNPTAB):c.396C>G (p.His132Gln) rs781230173 0.00001
NM_024312.5(GNPTAB):c.422T>C (p.Leu141Pro) rs1051498174 0.00001
NM_024312.5(GNPTAB):c.452T>G (p.Leu151Arg) rs200015550 0.00001
NM_024312.5(GNPTAB):c.578A>G (p.Asp193Gly) rs935456185 0.00001
NM_024312.5(GNPTAB):c.609C>G (p.Ser203Arg) rs529994474 0.00001
NM_024312.5(GNPTAB):c.64G>A (p.Val22Met) rs1448327145 0.00001
NM_024312.5(GNPTAB):c.794G>T (p.Ser265Ile) rs946939427 0.00001
NM_024312.5(GNPTAB):c.872A>G (p.Asp291Gly) rs775153910 0.00001
NM_024312.5(GNPTAB):c.934-14A>G rs766980401 0.00001
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly) rs137853824 0.00001
NC_000012.11:g.(?_102140922)_(102224473_?)dup
NC_000012.11:g.(?_102224317)_(102224473_?)dup
NC_000012.11:g.(?_102224327)_(102224463_?)dup
NM_024312.5(GNPTAB):c.1027G>T (p.Val343Phe) rs140518816
NM_024312.5(GNPTAB):c.1051A>G (p.Asn351Asp)
NM_024312.5(GNPTAB):c.1052A>G (p.Asn351Ser)
NM_024312.5(GNPTAB):c.1094T>C (p.Val365Ala)
NM_024312.5(GNPTAB):c.1113+3A>G rs1428507375
NM_024312.5(GNPTAB):c.1113+4C>A
NM_024312.5(GNPTAB):c.1185C>G (p.Ile395Met)
NM_024312.5(GNPTAB):c.1209T>G (p.Ile403Met) rs947905285
NM_024312.5(GNPTAB):c.1219G>A (p.Asp407Asn) rs776478014
NM_024312.5(GNPTAB):c.1230G>C (p.Met410Ile)
NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr) rs281864975
NM_024312.5(GNPTAB):c.1408+5G>C
NM_024312.5(GNPTAB):c.1409-3C>T
NM_024312.5(GNPTAB):c.142C>G (p.Gln48Glu) rs2137158804
NM_024312.5(GNPTAB):c.1498A>T (p.Asn500Tyr) rs2137119160
NM_024312.5(GNPTAB):c.14T>C (p.Leu5Pro)
NM_024312.5(GNPTAB):c.1517A>T (p.Asn506Ile)
NM_024312.5(GNPTAB):c.1523G>A (p.Gly508Glu)
NM_024312.5(GNPTAB):c.1540C>T (p.Leu514Phe) rs1953089808
NM_024312.5(GNPTAB):c.1543G>T (p.Ala515Ser) rs771144768
NM_024312.5(GNPTAB):c.1648C>G (p.Pro550Ala)
NM_024312.5(GNPTAB):c.1662C>A (p.His554Gln) rs146177204
NM_024312.5(GNPTAB):c.1662C>G (p.His554Gln)
NM_024312.5(GNPTAB):c.1664A>G (p.Tyr555Cys)
NM_024312.5(GNPTAB):c.1666ATT[1] (p.Ile557del) rs1555269798
NM_024312.5(GNPTAB):c.1684T>C (p.Cys562Arg)
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro) rs143788461
NM_024312.5(GNPTAB):c.176A>C (p.Asn59Thr)
NM_024312.5(GNPTAB):c.1810A>G (p.Ser604Gly)
NM_024312.5(GNPTAB):c.1847C>T (p.Thr616Met)
NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu) rs1555269734
NM_024312.5(GNPTAB):c.1881G>T (p.Met627Ile) rs757613660
NM_024312.5(GNPTAB):c.1903A>C (p.Thr635Pro)
NM_024312.5(GNPTAB):c.1945T>C (p.Tyr649His)
NM_024312.5(GNPTAB):c.1949A>G (p.Glu650Gly)
NM_024312.5(GNPTAB):c.1973TTC[1] (p.Leu659del) rs754722814
NM_024312.5(GNPTAB):c.2012A>G (p.Lys671Arg) rs145408865
NM_024312.5(GNPTAB):c.2020C>T (p.Arg674Cys)
NM_024312.5(GNPTAB):c.2027C>T (p.Pro676Leu)
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp) rs531738916
NM_024312.5(GNPTAB):c.2042A>G (p.His681Arg) rs1262269049
NM_024312.5(GNPTAB):c.2087C>T (p.Pro696Leu) rs1383772676
NM_024312.5(GNPTAB):c.2099T>C (p.Ile700Thr) rs756585780
NM_024312.5(GNPTAB):c.2105T>C (p.Leu702Pro)
NM_024312.5(GNPTAB):c.2148G>C (p.Leu716Phe) rs374600127
NM_024312.5(GNPTAB):c.221C>T (p.Pro74Leu)
NM_024312.5(GNPTAB):c.2243T>C (p.Ile748Thr) rs2137116813
NM_024312.5(GNPTAB):c.2246_2263dup (p.Ile754_Thr755insLysAsnGlnAlaIleIle)
NM_024312.5(GNPTAB):c.2257A>T (p.Ile753Leu)
NM_024312.5(GNPTAB):c.227A>G (p.Asp76Gly)
NM_024312.5(GNPTAB):c.228C>A (p.Asp76Glu) rs540190619
NM_024312.5(GNPTAB):c.2359A>G (p.Arg787Gly) rs200559243
NM_024312.5(GNPTAB):c.2359A>T (p.Arg787Trp)
NM_024312.5(GNPTAB):c.2381G>A (p.Ser794Asn) rs1566073760
NM_024312.5(GNPTAB):c.2403C>A (p.Asp801Glu)
NM_024312.5(GNPTAB):c.2463C>G (p.His821Gln)
NM_024312.5(GNPTAB):c.2498A>G (p.Glu833Gly) rs2137116285
NM_024312.5(GNPTAB):c.2501A>G (p.Lys834Arg) rs1169845050
NM_024312.5(GNPTAB):c.2657A>T (p.Asp886Val)
NM_024312.5(GNPTAB):c.2686A>G (p.Lys896Glu)
NM_024312.5(GNPTAB):c.2691_2693del (p.Lys898del) rs281864999
NM_024312.5(GNPTAB):c.2706TCT[1] (p.Leu904del) rs774128798
NM_024312.5(GNPTAB):c.2725T>G (p.Ser909Ala)
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.2799T>A (p.Asp933Glu) rs2137112904
NM_024312.5(GNPTAB):c.2825T>C (p.Leu942Pro) rs2137112862
NM_024312.5(GNPTAB):c.2830A>C (p.Ser944Arg)
NM_024312.5(GNPTAB):c.2864C>T (p.Ala955Val) rs138390866
NM_024312.5(GNPTAB):c.2886C>A (p.Asp962Glu) rs368650569
NM_024312.5(GNPTAB):c.2887C>T (p.Arg963Trp)
NM_024312.5(GNPTAB):c.2954T>C (p.Val985Ala)
NM_024312.5(GNPTAB):c.2963C>A (p.Ser988Tyr) rs2137112214
NM_024312.5(GNPTAB):c.2972T>G (p.Met991Arg)
NM_024312.5(GNPTAB):c.2984T>C (p.Phe995Ser) rs1952988897
NM_024312.5(GNPTAB):c.2990A>G (p.Tyr997Cys) rs1594210905
NM_024312.5(GNPTAB):c.3018G>C (p.Gln1006His)
NM_024312.5(GNPTAB):c.3026A>C (p.Asn1009Thr) rs1952987566
NM_024312.5(GNPTAB):c.307G>A (p.Glu103Lys)
NM_024312.5(GNPTAB):c.3110T>C (p.Ile1037Thr)
NM_024312.5(GNPTAB):c.3115G>A (p.Glu1039Lys) rs201356176
NM_024312.5(GNPTAB):c.3166A>T (p.Asn1056Tyr)
NM_024312.5(GNPTAB):c.3175A>G (p.Lys1059Glu)
NM_024312.5(GNPTAB):c.3214CCA[1] (p.Pro1073del) rs1416737240
NM_024312.5(GNPTAB):c.3254C>T (p.Pro1085Leu)
NM_024312.5(GNPTAB):c.32A>G (p.Tyr11Cys)
NM_024312.5(GNPTAB):c.3364G>A (p.Ala1122Thr)
NM_024312.5(GNPTAB):c.3405C>T (p.Gly1135=) rs746803948
NM_024312.5(GNPTAB):c.3414_3416dup (p.Asp1139dup) rs745600783
NM_024312.5(GNPTAB):c.3415G>A (p.Asp1139Asn) rs758156963
NM_024312.5(GNPTAB):c.3422_3424del (p.Arg1141del) rs1952913803
NM_024312.5(GNPTAB):c.3431C>G (p.Pro1144Arg)
NM_024312.5(GNPTAB):c.3434+6G>C
NM_024312.5(GNPTAB):c.3438G>T (p.Lys1146Asn) rs1952854319
NM_024312.5(GNPTAB):c.3498_3499insCATAAAGAT (p.Ala1166_Val1167insHisLysAsp) rs1555268297
NM_024312.5(GNPTAB):c.3515A>G (p.Tyr1172Cys)
NM_024312.5(GNPTAB):c.3515A>T (p.Tyr1172Phe) rs149859473
NM_024312.5(GNPTAB):c.3518A>G (p.Glu1173Gly)
NM_024312.5(GNPTAB):c.3529C>T (p.Pro1177Ser) rs1040259737
NM_024312.5(GNPTAB):c.3566G>A (p.Arg1189Gln)
NM_024312.5(GNPTAB):c.3572G>A (p.Arg1191His)
NM_024312.5(GNPTAB):c.3586C>T (p.His1196Tyr)
NM_024312.5(GNPTAB):c.3587A>G (p.His1196Arg) rs1566067234
NM_024312.5(GNPTAB):c.3603-9T>G
NM_024312.5(GNPTAB):c.3614G>A (p.Arg1205Gln)
NM_024312.5(GNPTAB):c.3641_3646del (p.Cys1214_Val1215del)
NM_024312.5(GNPTAB):c.3658A>G (p.Ile1220Val) rs2137097771
NM_024312.5(GNPTAB):c.3664T>A (p.Phe1222Ile) rs1952778790
NM_024312.5(GNPTAB):c.3678_3680del (p.Phe1228del)
NM_024312.5(GNPTAB):c.3693+3_3693+6del rs758540278
NM_024312.5(GNPTAB):c.3694-1G>C rs1297022622
NM_024312.5(GNPTAB):c.3707A>G (p.Lys1236Arg) rs556318081
NM_024312.5(GNPTAB):c.3715A>G (p.Ile1239Val)
NM_024312.5(GNPTAB):c.3733A>T (p.Ile1245Leu) rs774971931
NM_024312.5(GNPTAB):c.457G>A (p.Asp153Asn) rs886048853
NM_024312.5(GNPTAB):c.560G>A (p.Ser187Asn)
NM_024312.5(GNPTAB):c.569A>G (p.Asp190Gly)
NM_024312.5(GNPTAB):c.571+3A>C rs281864960
NM_024312.5(GNPTAB):c.636+3A>G
NM_024312.5(GNPTAB):c.636+4T>C rs1306693913
NM_024312.5(GNPTAB):c.653T>C (p.Val218Ala) rs1953322163
NM_024312.5(GNPTAB):c.718A>G (p.Thr240Ala) rs2137136978
NM_024312.5(GNPTAB):c.758C>A (p.Ser253Tyr)
NM_024312.5(GNPTAB):c.796G>A (p.Val266Ile)
NM_024312.5(GNPTAB):c.800C>T (p.Ala267Val)
NM_024312.5(GNPTAB):c.808A>G (p.Lys270Glu)
NM_024312.5(GNPTAB):c.833A>G (p.Gln278Arg)
NM_024312.5(GNPTAB):c.862A>G (p.Met288Val)
NM_024312.5(GNPTAB):c.871G>A (p.Asp291Asn)
NM_024312.5(GNPTAB):c.909A>C (p.Leu303Phe)
NM_024312.5(GNPTAB):c.974A>G (p.Asp325Gly) rs1953155939
NM_024312.5(GNPTAB):c.979G>A (p.Glu327Lys) rs779983477

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