ClinVar Miner

List of variants in gene ALG13 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.384-213C>T rs1078540 0.26262
NM_001099922.3(ALG13):c.1729+61G>A rs58580842 0.23558
NM_001099922.3(ALG13):c.835-22T>C rs5985635 0.20221
NM_001099922.3(ALG13):c.2530-262C>T rs7055116 0.10646
NM_001099922.3(ALG13):c.383+831G>A rs146299985 0.08437
NC_000023.11:g.111680918del rs200121020 0.08071
NM_001099922.3(ALG13):c.383+239dup rs199523048 0.03223
NM_001099922.3(ALG13):c.1250+111C>T rs116840628 0.02501
NM_001099922.3(ALG13):c.834+194A>G rs114393695 0.02501
NM_001099922.3(ALG13):c.383+1129G>A rs112282413 0.02486
NM_001099922.3(ALG13):c.2529+275C>T rs16986620 0.01838
NM_001099922.3(ALG13):c.1006-97A>G rs58875439 0.01558
NM_001099922.3(ALG13):c.2933-214C>T rs57867104 0.01525
NM_001099922.3(ALG13):c.2974-41A>C rs3027819 0.01497
NM_001099922.3(ALG13):c.835-264T>G rs16986609 0.01226
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_001099922.3(ALG13):c.383+2509T>C rs147964455 0.00772
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_001099922.3(ALG13):c.2933-57A>G rs138109869 0.00636
NM_001099922.3(ALG13):c.2530-310G>T rs142085120 0.00630
NM_001099922.3(ALG13):c.383+1029A>G rs139631003 0.00625
NM_001099922.3(ALG13):c.2248-42A>G rs147250361 0.00623
NM_001099922.3(ALG13):c.1088-55A>G rs140598403 0.00398
NM_001099922.3(ALG13):c.1501-298G>A rs183838053 0.00395
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623 0.00390
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001099922.3(ALG13):c.835-217A>G rs113803341 0.00274
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001099922.3(ALG13):c.2932+178T>A rs181510117 0.00229
NM_001099922.3(ALG13):c.2932+179C>A rs185262155 0.00228
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_001099922.3(ALG13):c.3358A>G (p.Ile1120Val) rs369167525 0.00058
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00046
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406 0.00035
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377 0.00035
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779 0.00024
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_001099922.3(ALG13):c.-14G>A rs199642821 0.00018
NM_001099922.3(ALG13):c.383+1033G>A rs772039609 0.00017
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344 0.00014
NM_001099922.3(ALG13):c.2802T>A (p.Pro934=) rs865879266 0.00014
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys) rs367783946 0.00013
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506 0.00013
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp) rs372209528 0.00013
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00012
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=) rs772431643 0.00011
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102 0.00010
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu) rs751478782 0.00010
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179 0.00010
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser) rs200516126 0.00009
NM_001099922.3(ALG13):c.384-5C>T rs763318921 0.00008
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser) rs773666398 0.00007
NM_001099922.3(ALG13):c.288C>T (p.Leu96=) rs369867857 0.00007
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu) rs915629293 0.00007
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216 0.00006
NM_001099922.3(ALG13):c.3297T>A (p.His1099Gln) rs1038668048 0.00006
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001099922.3(ALG13):c.1377C>G (p.Ala459=) rs368020541 0.00005
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400 0.00005
NM_001099922.3(ALG13):c.2529+6C>G rs1569520797 0.00005
NM_001099922.3(ALG13):c.2805T>A (p.Pro935=) rs754346057 0.00005
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn) rs750257151 0.00005
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673 0.00005
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly) rs775191661 0.00005
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001099922.3(ALG13):c.246T>G (p.Gly82=) rs1934561313 0.00004
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719 0.00004
NM_001099922.3(ALG13):c.350A>T (p.His117Leu) rs754497897 0.00004
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917 0.00003
NM_001099922.3(ALG13):c.2401+9G>T rs1036320277 0.00003
NM_001099922.3(ALG13):c.1977-12C>T rs374618611 0.00002
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe) rs919912146 0.00002
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser) rs773286994 0.00002
NM_001099922.3(ALG13):c.2324A>G (p.Lys775Arg) rs766946325 0.00002
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818 0.00002
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744 0.00002
NM_001099922.3(ALG13):c.360T>C (p.Gly120=) rs747837898 0.00002
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val) rs373025706 0.00002
NM_001099922.3(ALG13):c.834+3A>G rs370066652 0.00002
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943 0.00001
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541 0.00001
NM_001099922.3(ALG13):c.1308A>G (p.Lys436=) rs1423402192 0.00001
NM_001099922.3(ALG13):c.1349T>C (p.Met450Thr) rs1057523457 0.00001
NM_001099922.3(ALG13):c.1869C>T (p.His623=) rs747208594 0.00001
NM_001099922.3(ALG13):c.1921C>G (p.His641Asp) rs760283589 0.00001
NM_001099922.3(ALG13):c.1947G>A (p.Pro649=) rs758659441 0.00001
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys) rs1164687660 0.00001
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys) rs764031698 0.00001
NM_001099922.3(ALG13):c.2110C>T (p.Arg704Cys) rs767153325 0.00001
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser) rs775045681 0.00001
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg) rs756114101 0.00001
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln) rs374290658 0.00001
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala) rs781178409 0.00001
NM_001099922.3(ALG13):c.2564G>A (p.Cys855Tyr) rs1279923204 0.00001
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) rs756238772 0.00001
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727 0.00001
NM_001099922.3(ALG13):c.2758C>A (p.Pro920Thr) rs748792396 0.00001
NM_001099922.3(ALG13):c.2834C>T (p.Pro945Leu) rs752969214 0.00001
NM_001099922.3(ALG13):c.2853G>T (p.Glu951Asp) rs755910935 0.00001
NM_001099922.3(ALG13):c.2875C>A (p.Pro959Thr) rs778329557 0.00001
NM_001099922.3(ALG13):c.2974-5T>C rs776113182 0.00001
NM_001099922.3(ALG13):c.3197A>G (p.Tyr1066Cys) rs1219035683 0.00001
NM_001099922.3(ALG13):c.3301G>C (p.Val1101Leu) rs1370248370 0.00001
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632 0.00001
NM_001099922.3(ALG13):c.486T>C (p.Phe162=) rs751015058 0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) rs886042566 0.00001
NM_001099922.3(ALG13):c.653A>G (p.Asn218Ser) rs1381356440 0.00001
NM_001099922.3(ALG13):c.744G>A (p.Ser248=) rs755327837 0.00001
GRCh37/hg19 Xq23(chrX:110738880-110952404)x2
GRCh37/hg19 Xq23(chrX:110906272-110958618)x3
NM_001099922.3(ALG13):c.1031G>A (p.Gly344Asp)
NM_001099922.3(ALG13):c.1058A>G (p.Gln353Arg) rs2148110841
NM_001099922.3(ALG13):c.1228T>C (p.Tyr410His)
NM_001099922.3(ALG13):c.124G>A (p.Gly42Ser) rs2147625157
NM_001099922.3(ALG13):c.128G>A (p.Arg43Lys) rs1057519175
NM_001099922.3(ALG13):c.1290A>G (p.Ile430Met) rs1556498080
NM_001099922.3(ALG13):c.1324A>G (p.Lys442Glu) rs2148136508
NM_001099922.3(ALG13):c.1438C>G (p.Leu480Val) rs2148165155
NM_001099922.3(ALG13):c.1501-199_1501-198del rs374664795
NM_001099922.3(ALG13):c.1709G>A (p.Gly570Glu)
NM_001099922.3(ALG13):c.1712G>A (p.Gly571Asp) rs2148191483
NM_001099922.3(ALG13):c.1799T>C (p.Met600Thr) rs2148217805
NM_001099922.3(ALG13):c.1883A>G (p.His628Arg)
NM_001099922.3(ALG13):c.2008A>G (p.Met670Val)
NM_001099922.3(ALG13):c.2037A>C (p.Pro679=)
NM_001099922.3(ALG13):c.2091-8C>G rs939425312
NM_001099922.3(ALG13):c.2102G>A (p.Arg701His)
NM_001099922.3(ALG13):c.2111G>A (p.Arg704His)
NM_001099922.3(ALG13):c.2142G>T (p.Gln714His) rs1602749741
NM_001099922.3(ALG13):c.2143T>C (p.Tyr715His)
NM_001099922.3(ALG13):c.2191A>G (p.Thr731Ala)
NM_001099922.3(ALG13):c.2237C>T (p.Pro746Leu)
NM_001099922.3(ALG13):c.2252A>T (p.His751Leu) rs1556509249
NM_001099922.3(ALG13):c.2282C>T (p.Thr761Ile) rs2148234911
NM_001099922.3(ALG13):c.2288G>C (p.Gly763Ala)
NM_001099922.3(ALG13):c.2291A>G (p.Tyr764Cys)
NM_001099922.3(ALG13):c.2324A>T (p.Lys775Ile)
NM_001099922.3(ALG13):c.2334G>C (p.Leu778Phe) rs1942288359
NM_001099922.3(ALG13):c.2337T>G (p.Asn779Lys)
NM_001099922.3(ALG13):c.2352T>A (p.Asn784Lys) rs1602753116
NM_001099922.3(ALG13):c.2369-214dup rs755444704
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) rs1064796372
NM_001099922.3(ALG13):c.2458-1G>A rs1008287339
NM_001099922.3(ALG13):c.2458-34_2458dup rs2148313935
NM_001099922.3(ALG13):c.2465A>G (p.Gln822Arg)
NM_001099922.3(ALG13):c.2572A>G (p.Asn858Asp)
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe) rs755213977
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr) rs1556517088
NM_001099922.3(ALG13):c.2754ACC[10] (p.Pro941_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2755C>A (p.Pro919Thr) rs1944061818
NM_001099922.3(ALG13):c.2756C>T (p.Pro919Leu)
NM_001099922.3(ALG13):c.2763A>C (p.Pro921=) rs1602887961
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu) rs1047232159
NM_001099922.3(ALG13):c.2771C>T (p.Pro924Leu) rs2148403928
NM_001099922.3(ALG13):c.2775A>C (p.Pro925=) rs1285221362
NM_001099922.3(ALG13):c.2793A>T (p.Pro931=)
NM_001099922.3(ALG13):c.2797CCT[10] (p.Pro943_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[9] (p.Pro942_Pro945del) rs56717389
NM_001099922.3(ALG13):c.284C>T (p.Pro95Leu) rs2147692312
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) rs2148407095
NM_001099922.3(ALG13):c.2974-79del rs75519151
NM_001099922.3(ALG13):c.2974-79dup rs75519151
NM_001099922.3(ALG13):c.305A>T (p.Glu102Val)
NM_001099922.3(ALG13):c.3149-12C>T rs1603002604
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.321T>G (p.Asn107Lys) rs748812688
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe) rs372990620
NM_001099922.3(ALG13):c.3232C>T (p.Pro1078Ser)
NM_001099922.3(ALG13):c.3246T>G (p.Phe1082Leu)
NM_001099922.3(ALG13):c.327G>A (p.Gln109=) rs1602495506
NM_001099922.3(ALG13):c.3322TCT[1] (p.Ser1109del) rs1222713795
NM_001099922.3(ALG13):c.3322_3323delinsGG (p.Ser1108Gly) rs2148531992
NM_001099922.3(ALG13):c.3326C>A (p.Ser1109Tyr)
NM_001099922.3(ALG13):c.337G>A (p.Ala113Thr) rs1057521748
NM_001099922.3(ALG13):c.346C>T (p.Leu116=) rs1602495633
NM_001099922.3(ALG13):c.355G>C (p.Glu119Gln) rs887878543
NM_001099922.3(ALG13):c.383+2794G>A
NM_001099922.3(ALG13):c.383+2827A>C
NM_001099922.3(ALG13):c.383+2885G>A rs2147754268
NM_001099922.3(ALG13):c.384G>A (p.Arg128=) rs984821885
NM_001099922.3(ALG13):c.440A>G (p.Gln147Arg) rs2147996000
NM_001099922.3(ALG13):c.473C>G (p.Ser158Ter) rs2147996566
NM_001099922.3(ALG13):c.474A>G (p.Ser158=) rs1602635527
NM_001099922.3(ALG13):c.518C>T (p.Ala173Val) rs188589829
NM_001099922.3(ALG13):c.586C>T (p.Pro196Ser)
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.64G>A (p.Ala22Thr) rs1933048489
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.82-150_82-149insCTTTA rs10674188
NM_001099922.3(ALG13):c.886-303C>G rs138878988
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys) rs372176416
NM_001099922.3(ALG13):c.912A>C (p.Arg304Ser)
NM_001099922.3(ALG13):c.931A>G (p.Asn311Asp)
NM_001099922.3(ALG13):c.932+2T>C rs2148044276
NM_001099922.3(ALG13):c.968C>T (p.Pro323Leu)
NM_001099922.3(ALG13):c.979G>A (p.Val327Ile) rs2148053185
NM_001099922.3(ALG13):c.989A>G (p.Asn330Ser)

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.