ClinVar Miner

List of variants in gene ALG13 studied for not provided

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Gene type:
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Total variants: 87
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HGVS dbSNP
GRCh37/hg19 Xq23(chrX:110738880-110952404)x2
GRCh37/hg19 Xq23(chrX:110906272-110958618)x3
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943
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.1182G>A (p.Lys394=) rs1602694246
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541
NM_001099922.3(ALG13):c.1221T>C (p.His407=) rs1602694489
NM_001099922.3(ALG13):c.1251-4T>C rs1602705501
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.1308A>G (p.Lys436=) rs1423402192
NM_001099922.3(ALG13):c.1349T>C (p.Met450Thr) rs1057523457
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly) rs184599884
NM_001099922.3(ALG13):c.139G>A (p.Val47Ile) rs766512298
NM_001099922.3(ALG13):c.1707T>C (p.Pro569=) rs1602730890
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.183C>T (p.Tyr61=) rs146925326
NM_001099922.3(ALG13):c.1869C>T (p.His623=) rs747208594
NM_001099922.3(ALG13):c.1977-12C>T rs374618611
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2091-8C>G rs939425312
NM_001099922.3(ALG13):c.2142G>A (p.Gln714=) rs1602749741
NM_001099922.3(ALG13):c.2205T>C (p.Tyr735=) rs1060503802
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400
NM_001099922.3(ALG13):c.2248-42A>G rs147250361
NM_001099922.3(ALG13):c.2252A>T (p.His751Leu) rs1556509249
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser) rs775045681
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.2352T>A (p.Asn784Lys) rs1602753116
NM_001099922.3(ALG13):c.2380_2382GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2401+9G>T rs1036320277
NM_001099922.3(ALG13):c.241G>A (p.Ala81Thr) rs1064796372
NM_001099922.3(ALG13):c.2458-1G>A rs1008287339
NM_001099922.3(ALG13):c.2475G>A (p.Lys825=) rs1298792527
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.2573A>G (p.Asn858Ser) rs756238772
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727
NM_001099922.3(ALG13):c.2616A>G (p.Gln872=) rs764400701
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.2754_2756ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[16] (p.Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[18] (p.Pro943_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2763A>C (p.Pro921=) rs1602887961
NM_001099922.3(ALG13):c.2784A>C (p.Pro928=) rs1602888630
NM_001099922.3(ALG13):c.2787A>C (p.Pro929=) rs772431643
NM_001099922.3(ALG13):c.2797_2799CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn) rs750257151
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375
NM_001099922.3(ALG13):c.2933-214C>T rs57867104
NM_001099922.3(ALG13):c.2933-57A>G rs138109869
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=) rs376626719
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001099922.3(ALG13):c.3149-12C>T rs1603002604
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744
NM_001099922.3(ALG13):c.327G>A (p.Gln109=) rs1602495506
NM_001099922.3(ALG13):c.3297T>A (p.His1099Gln) rs1038668048
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.371A>G (p.Tyr124Cys) rs145518377
NM_001099922.3(ALG13):c.383+1029A>G rs139631003
NM_001099922.3(ALG13):c.419C>T (p.Ala140Val) rs373025706
NM_001099922.3(ALG13):c.474A>G (p.Ser158=) rs1602635527
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.652A>G (p.Asn218Asp) rs886042566
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.835-264T>G rs16986609
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala) rs753556936
NM_001099922.3(ALG13):c.995A>G (p.Tyr332Cys) rs370098098

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