ClinVar Miner

List of variants in gene ALG13 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP
NM_001099922.3(ALG13):c.-14G>A rs199642821
NM_001099922.3(ALG13):c.-27G>A rs201622950
NM_001099922.3(ALG13):c.-7C>T rs188487746
NM_001099922.3(ALG13):c.-9A>G rs374253660
NM_001099922.3(ALG13):c.1006-14G>A rs760527824
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406
NM_001099922.3(ALG13):c.1087+18A>G rs374773161
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637
NM_001099922.3(ALG13):c.1277A>G (p.Asn426Ser) rs1208820400
NM_001099922.3(ALG13):c.1290A>G (p.Ile430Met) rs1556498080
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) rs7063657
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031
NM_001099922.3(ALG13):c.1308A>G (p.Lys436=) rs1423402192
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys) rs367783946
NM_001099922.3(ALG13):c.1327-19A>G rs375412069
NM_001099922.3(ALG13):c.1349T>C (p.Met450Thr) rs1057523457
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu) rs199754211
NM_001099922.3(ALG13):c.1435+11A>G rs1556499962
NM_001099922.3(ALG13):c.1435+5A>T rs5985638
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367
NM_001099922.3(ALG13):c.1601+11G>A rs770867470
NM_001099922.3(ALG13):c.1729+14A>G rs763484848
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917
NM_001099922.3(ALG13):c.1812C>T (p.Tyr604=) rs768241839
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser) rs773666398
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val) rs199505558
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102
NM_001099922.3(ALG13):c.1976+20G>A rs1556507692
NM_001099922.3(ALG13):c.1977-12C>T rs374618611
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=) rs778640194
NM_001099922.3(ALG13):c.2091-8C>G rs939425312
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400
NM_001099922.3(ALG13):c.2248-11C>T rs377064873
NM_001099922.3(ALG13):c.2248-15G>C rs139711892
NM_001099922.3(ALG13):c.2248-25GT[7] rs757486083
NM_001099922.3(ALG13):c.2248-42A>G rs147250361
NM_001099922.3(ALG13):c.2248-4A>G rs370438099
NM_001099922.3(ALG13):c.2252A>T (p.His751Leu) rs1556509249
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) rs748648454
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu) rs751478782
NM_001099922.3(ALG13):c.2324A>G (p.Lys775Arg) rs766946325
NM_001099922.3(ALG13):c.2368+10T>G rs1556509952
NM_001099922.3(ALG13):c.2369-4_2369-3del rs1064795371
NM_001099922.3(ALG13):c.2369-7dup rs1556512668
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126
NM_001099922.3(ALG13):c.2380_2382GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=) rs759719376
NM_001099922.3(ALG13):c.2401+12C>A rs150294098
NM_001099922.3(ALG13):c.2401+9G>T rs1036320277
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) rs1064796372
NM_001099922.3(ALG13):c.244+5_244+6insC rs1556445112
NM_001099922.3(ALG13):c.244+7G>T rs1556445122
NM_001099922.3(ALG13):c.2457+15_2457+17del rs761459857
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878
NM_001099922.3(ALG13):c.2529+275C>T rs16986620
NM_001099922.3(ALG13):c.2529+6C>G rs1569520797
NM_001099922.3(ALG13):c.2530-262C>T rs7055116
NM_001099922.3(ALG13):c.2530-310G>T rs142085120
NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser) rs1556516921
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr) rs1556517088
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623
NM_001099922.3(ALG13):c.2695+15G>C rs1057522064
NM_001099922.3(ALG13):c.273A>G (p.Glu91=) rs1057522348
NM_001099922.3(ALG13):c.2754A>G (p.Leu918=) rs1057523456
NM_001099922.3(ALG13):c.2754_2756ACC[10] (p.Pro941_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[11] (p.Pro942_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[18] (p.Pro943_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=) rs772431643
NM_001099922.3(ALG13):c.2795C>T (p.Pro932Leu) rs773392173
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452
NM_001099922.3(ALG13):c.2797_2799CCT[9] (p.Pro942_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn) rs750257151
NM_001099922.3(ALG13):c.2892A>G (p.Pro964=) rs1556523067
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375
NM_001099922.3(ALG13):c.2933-15G>T rs372767806
NM_001099922.3(ALG13):c.2933-214C>T rs57867104
NM_001099922.3(ALG13):c.2933-57A>G rs138109869
NM_001099922.3(ALG13):c.2973+20T>A rs368694871
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531
NM_001099922.3(ALG13):c.303C>T (p.Asn101=) rs763113044
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001099922.3(ALG13):c.3149-12C>T rs1603002604
NM_001099922.3(ALG13):c.3159G>A (p.Pro1053=) rs1556539037
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.3252C>G (p.Ser1084=) rs1171897545
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744
NM_001099922.3(ALG13):c.3278C>T (p.Ser1093Phe) rs1465704791
NM_001099922.3(ALG13):c.3297T>A (p.His1099Gln) rs1038668048
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val) rs369167525
NM_001099922.3(ALG13):c.337G>A (p.Ala113Thr) rs1057521748
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102
NM_001099922.3(ALG13):c.355G>C (p.Glu119Gln) rs887878543
NM_001099922.3(ALG13):c.360T>C (p.Gly120=) rs747837898
NM_001099922.3(ALG13):c.383+1029A>G rs139631003
NM_001099922.3(ALG13):c.383+1033G>A rs772039609
NM_001099922.3(ALG13):c.384-5C>T rs763318921
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val) rs373025706
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu) rs200293248
NM_001099922.3(ALG13):c.486T>C (p.Phe162=) rs751015058
NM_001099922.3(ALG13):c.54G>A (p.Ala18=) rs1406539581
NM_001099922.3(ALG13):c.588T>G (p.Pro196=) rs747214832
NM_001099922.3(ALG13):c.59T>C (p.Val20Ala) rs1057522579
NM_001099922.3(ALG13):c.632A>G (p.Tyr211Cys) rs1556483387
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006
NM_001099922.3(ALG13):c.653A>G (p.Asn218Ser) rs1381356440
NM_001099922.3(ALG13):c.744G>A (p.Ser248=) rs755327837
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn) rs1057522540
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.81+108C>T rs776511444
NM_001099922.3(ALG13):c.835-264T>G rs16986609
NM_001099922.3(ALG13):c.886-16C>A rs780688383
NM_001099922.3(ALG13):c.886-17A>G rs1057523046
NM_001099922.3(ALG13):c.886-19A>G rs773121084

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