ClinVar Miner

List of variants in gene ALG13 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=) rs772765360
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His)
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val)
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790
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.1824C>T (p.Asp608=) rs761077008
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser)
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) rs1194966893
NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg)
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp)
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe)
NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys)
NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe) rs1569519563
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.2248-4A>G rs370438099
NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg) rs1556509706
NM_001099922.3(ALG13):c.2368+10T>G rs1556509952
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln) rs374290658
NM_001099922.3(ALG13):c.2380_2382GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2396G>A (p.Arg799His) rs1441099792
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216
NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys)
NM_001099922.3(ALG13):c.2529+5T>C rs749420976
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) rs756238772
NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe) rs1556516959
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe)
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup)
NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val) rs1556517111
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) rs972892187
NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[17] (p.Pro944_Pro945dup)
NM_001099922.3(ALG13):c.2754_2756ACC[18] (p.Pro943_Pro945dup)
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del)
NM_001099922.3(ALG13):c.2797_2799CCT[10] (p.Pro943_Pro945del)
NM_001099922.3(ALG13):c.2797_2799CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797_2799CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup)
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710
NM_001099922.3(ALG13):c.280A>G (p.Lys94Glu) rs397514587
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.3017A>G (p.Gln1006Arg) rs753692221
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp)
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe) rs372990620
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673
NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser)
NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=) rs761412613
NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala)
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045
NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg)
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102
NM_001099922.3(ALG13):c.350A>T (p.His117Leu) rs754497897
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) rs1556449735
NM_001099922.3(ALG13):c.384-5C>T rs763318921
NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu)
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val) rs1060500008
NM_001099922.3(ALG13):c.456G>A (p.Leu152=) rs762934062
NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser)
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006
NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu)
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu)
NM_001099922.3(ALG13):c.886-7T>C rs1556488604
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys)
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly)
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys)

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