ClinVar Miner

List of variants in gene NAGLU reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP
NM_000263.3(NAGLU):c.-144G>A rs538885425
NM_000263.3(NAGLU):c.-167G>T rs145830042
NM_000263.3(NAGLU):c.-212G>C rs538288877
NM_000263.3(NAGLU):c.-228C>G rs554915381
NM_000263.3(NAGLU):c.-271A>G rs369458319
NM_000263.3(NAGLU):c.-275T>C rs567758523
NM_000263.3(NAGLU):c.-78C>G rs886052951
NM_000263.3(NAGLU):c.-81C>T rs189515084
NM_000263.3(NAGLU):c.-82T>C rs886052950
NM_000263.4(NAGLU):c.*174A>G
NM_000263.4(NAGLU):c.*198del rs747726415
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) rs768918822
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro)
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) rs1599260473
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) rs1555622266
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile)
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.135G>C (p.Ala45=)
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn) rs1555622346
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) rs104894599
NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp) rs200981229
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val)
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser) rs1599261339
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val) rs886052952
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) rs146715254
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) rs1555622482
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn) rs375068243
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu)
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His) rs1599262171
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup) rs1186888836
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) rs540744217
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg) rs1329159364
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) rs1555621404
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) rs1555622589
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) rs749371796
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup) rs1555621450
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del) rs1555621405
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg)
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del) rs1555621469
NM_000263.4(NAGLU):c.383+7C>T rs768602711
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) rs1555621579
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu) rs1238423614
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val)
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del) rs1555621605
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666
NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp)
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup) rs1555621396
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
NM_000263.4(NAGLU):c.678+4A>G
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) rs146456266
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) rs777479452
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806

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