ClinVar Miner

List of variants in gene ALG13 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377 0.00035
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp) rs372209528 0.00013
NM_001099922.3(ALG13):c.2309G>A (p.Gly770Glu) rs751478782 0.00010
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.2842G>A (p.Asp948Asn) rs750257151 0.00005
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly) rs775191661 0.00005
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031 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.2078C>T (p.Ser693Phe) rs919912146 0.00002
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744 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.1217C>T (p.Ala406Val) rs1057522541 0.00001
NM_001099922.3(ALG13):c.1349T>C (p.Met450Thr) rs1057523457 0.00001
NM_001099922.3(ALG13):c.1921C>G (p.His641Asp) rs760283589 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.2312A>G (p.His771Arg) rs756114101 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.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.3197A>G (p.Tyr1066Cys) rs1219035683 0.00001
NM_001099922.3(ALG13):c.3301G>C (p.Val1101Leu) rs1370248370 0.00001
NM_001099922.3(ALG13):c.653A>G (p.Asn218Ser) rs1381356440 0.00001
NM_001099922.3(ALG13):c.1031G>A (p.Gly344Asp)
NM_001099922.3(ALG13):c.1058A>G (p.Gln353Arg) rs2148110841
NM_001099922.3(ALG13):c.124G>A (p.Gly42Ser) rs2147625157
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.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.2037A>C (p.Pro679=)
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.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.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.241G>A (p.Ala81Thr) rs1064796372
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.2755C>A (p.Pro919Thr) rs1944061818
NM_001099922.3(ALG13):c.2756C>T (p.Pro919Leu)
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.284C>T (p.Pro95Leu) rs2147692312
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) rs2148407095
NM_001099922.3(ALG13):c.305A>T (p.Glu102Val)
NM_001099922.3(ALG13):c.321T>G (p.Asn107Lys) rs748812688
NM_001099922.3(ALG13):c.3232C>T (p.Pro1078Ser)
NM_001099922.3(ALG13):c.3246T>G (p.Phe1082Leu)
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.355G>C (p.Glu119Gln) rs887878543
NM_001099922.3(ALG13):c.383+2794G>A
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.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.64G>A (p.Ala22Thr) rs1933048489
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn) rs1057522540
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys) rs372176416
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)

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