ClinVar Miner

List of variants in gene ALG13 studied for not specified

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Gene type:
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Total variants: 82
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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.2401+12C>A rs150294098 0.00767
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_001099922.3(ALG13):c.383+1029A>G rs139631003 0.00625
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.2799T>A (p.Pro933=) rs13440710 0.00296
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_001099922.3(ALG13):c.-27G>A rs201622950 0.00066
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_001099922.3(ALG13):c.1327-19A>G rs375412069 0.00048
NM_001099922.3(ALG13):c.1006-14G>A rs760527824 0.00045
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001099922.3(ALG13):c.2248-15G>C rs139711892 0.00039
NM_001099922.3(ALG13):c.-7C>T rs188487746 0.00036
NM_001099922.3(ALG13):c.1729+14A>G rs763484848 0.00036
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_001099922.3(ALG13):c.886-16C>A rs780688383 0.00023
NM_001099922.3(ALG13):c.-9A>G rs374253660 0.00021
NM_001099922.3(ALG13):c.383+1033G>A rs772039609 0.00017
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134 0.00015
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu) rs199754211 0.00014
NM_001099922.3(ALG13):c.1277A>G (p.Asn426Ser) rs1208820400 0.00009
NM_001099922.3(ALG13):c.2933-15G>T rs372767806 0.00008
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu) rs200293248 0.00006
NM_001099922.3(ALG13):c.1087+18A>G rs374773161 0.00005
NM_001099922.3(ALG13):c.108A>G (p.Arg36=) rs769838471 0.00005
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558 0.00005
NM_001099922.3(ALG13):c.2385A>G (p.Glu795=) rs759719376 0.00005
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031 0.00004
NM_001099922.3(ALG13):c.2266A>G (p.Thr756Ala) rs748648454 0.00004
NM_001099922.3(ALG13):c.1812C>T (p.Tyr604=) rs768241839 0.00003
NM_001099922.3(ALG13):c.303C>T (p.Asn101=) rs763113044 0.00003
NM_001099922.3(ALG13):c.3252C>G (p.Ser1084=) rs1171897545 0.00003
NM_001099922.3(ALG13):c.2248-11C>T rs377064873 0.00002
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126 0.00002
NM_001099922.3(ALG13):c.2754A>G (p.Leu918=) rs1057523456 0.00002
NM_001099922.3(ALG13):c.2973+20T>A rs368694871 0.00002
NM_001099922.3(ALG13):c.54G>A (p.Ala18=) rs1406539581 0.00002
NM_001099922.3(ALG13):c.588T>G (p.Pro196=) rs747214832 0.00002
NM_001099922.3(ALG13):c.81+108C>T rs776511444 0.00002
NM_001099922.3(ALG13):c.886-19A>G rs773121084 0.00002
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala) rs1238751751 0.00001
NM_001099922.3(ALG13):c.1910T>C (p.Met637Thr) rs774331771 0.00001
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=) rs778640194 0.00001
NM_001099922.3(ALG13):c.2368+10T>G rs1556509952 0.00001
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala) rs781178409 0.00001
NM_001099922.3(ALG13):c.244+5_244+6insC rs1556445112 0.00001
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727 0.00001
NM_001099922.3(ALG13):c.2695+15G>C rs1057522064 0.00001
NM_001099922.3(ALG13):c.273A>G (p.Glu91=) rs1057522348 0.00001
NM_001099922.3(ALG13):c.3159G>A (p.Pro1053=) rs1556539037 0.00001
NM_001099922.3(ALG13):c.3278C>T (p.Ser1093Phe) rs1465704791 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.886-17A>G rs1057523046 0.00001
NM_001099922.3(ALG13):c.1265G>T (p.Gly422Val) rs2148135895
NM_001099922.3(ALG13):c.1435+11A>G rs1556499962
NM_001099922.3(ALG13):c.1601+11G>A rs770867470
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val) rs199505558
NM_001099922.3(ALG13):c.1976+20G>A rs1556507692
NM_001099922.3(ALG13):c.2248-25GT[7] rs757486083
NM_001099922.3(ALG13):c.2369-4_2369-3del rs1064795371
NM_001099922.3(ALG13):c.2369-7dup rs1556512668
NM_001099922.3(ALG13):c.244+7G>T rs1556445122
NM_001099922.3(ALG13):c.2457+15_2457+17del rs761459857
NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser) rs1556516921
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2795C>T (p.Pro932Leu) rs773392173
NM_001099922.3(ALG13):c.2797CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2892A>G (p.Pro964=) rs1556523067
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.923T>A (p.Leu308Gln) rs187825159
NM_001099922.3(ALG13):c.933-8C>T rs1556489533

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