ClinVar Miner

List of variants in gene ALG13 studied for Inborn genetic diseases

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001099922.3(ALG13):c.1435+5A>T rs5985638 0.26139
NM_001099922.3(ALG13):c.1293A>G (p.Pro431=) rs7063657 0.10892
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637 0.01375
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326 0.00950
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
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.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00046
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001099922.3(ALG13):c.104A>G (p.Asn35Ser) rs149808406 0.00035
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779 0.00024
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu) rs199754211 0.00014
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys) rs367783946 0.00013
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val) rs138712375 0.00012
NM_001099922.3(ALG13):c.417T>C (p.Ile139=) rs748326545 0.00012
NM_001099922.3(ALG13):c.79C>G (p.Gln27Glu) rs1404395085 0.00010
NM_001099922.3(ALG13):c.1277A>G (p.Asn426Ser) rs1208820400 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.756T>G (p.Phe252Leu) rs915629293 0.00007
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673 0.00005
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala) rs753556936 0.00005
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) rs748648454 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.1596G>A (p.Ala532=) rs891310320 0.00002
NM_001099922.3(ALG13):c.1822G>C (p.Asp608His) rs374870130 0.00002
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541 0.00001
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val) rs1234385710 0.00001
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790 0.00001
NM_001099922.3(ALG13):c.245-4G>T rs761270344 0.00001
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) rs756238772 0.00001
NM_001099922.3(ALG13):c.2758C>A (p.Pro920Thr) rs748792396 0.00001
NM_001099922.3(ALG13):c.3084C>T (p.Thr1028=) rs758300150 0.00001
NM_001099922.3(ALG13):c.3278C>T (p.Ser1093Phe) rs1465704791 0.00001
NM_001099922.3(ALG13):c.3406G>T (p.Gly1136Cys) rs376207448 0.00001
NM_001099922.3(ALG13):c.389T>C (p.Leu130Pro) rs1220905347 0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) rs886042566 0.00001
NM_001099922.3(ALG13):c.916C>G (p.Leu306Val) rs1248942119 0.00001
NM_001099922.3(ALG13):c.-1C>T
NM_001099922.3(ALG13):c.1211A>C (p.Glu404Ala) rs1569517608
NM_001099922.3(ALG13):c.1310G>C (p.Gly437Ala)
NM_001099922.3(ALG13):c.135G>A (p.Thr45=)
NM_001099922.3(ALG13):c.1709G>A (p.Gly570Glu)
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val) rs199505558
NM_001099922.3(ALG13):c.1838C>G (p.Pro613Arg)
NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg) rs797044876
NM_001099922.3(ALG13):c.2351A>C (p.Asn784Thr)
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.274A>G (p.Lys92Glu)
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.2797CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup) rs771610606
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.3312A>G (p.Ala1104=) rs1487734085
NM_001099922.3(ALG13):c.3330A>T (p.Gln1110His)
NM_001099922.3(ALG13):c.3370G>A (p.Ala1124Thr)
NM_001099922.3(ALG13):c.344A>G (p.Gln115Arg)
NM_001099922.3(ALG13):c.354A>G (p.Lys118=) rs1569510723
NM_001099922.3(ALG13):c.869G>A (p.Arg290Gln) rs1939809151
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys) rs775191661

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