ClinVar Miner

Variants in gene AGL with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 61
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) rs138134718 0.00159
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395 0.00125
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708 0.00075
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763 0.00039
NM_000642.3(AGL):c.1333A>G (p.Met445Val) rs140375476 0.00031
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115 0.00027
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00020
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00017
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr) rs138823746 0.00016
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00016
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) rs150637770 0.00014
NM_000642.3(AGL):c.846+14G>A rs376827010 0.00014
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213 0.00009
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256 0.00008
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937 0.00007
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359 0.00006
NM_000642.3(AGL):c.293+3A>G rs375459662 0.00006
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00006
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308 0.00005
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606 0.00005
NM_000642.3(AGL):c.1899+9C>G rs768285138 0.00004
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) rs201584227 0.00004
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) rs780617757 0.00004
NM_000642.3(AGL):c.2950-5T>G rs760229683 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_000642.3(AGL):c.2682-7T>C rs375256646 0.00002
NM_000642.3(AGL):c.1082+4T>A rs781204563 0.00001
NM_000642.3(AGL):c.1284-12A>C rs886044918 0.00001
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721 0.00001
NM_000642.3(AGL):c.1650A>G (p.Leu550=) rs778806512 0.00001
NM_000642.3(AGL):c.2002-5T>A rs201718705 0.00001
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398 0.00001
NM_000642.3(AGL):c.3642C>T (p.Gly1214=) rs1261746082 0.00001
NM_000642.3(AGL):c.3771C>T (p.Gly1257=) rs760738241 0.00001
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) rs769025250 0.00001
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) rs376486225 0.00001
NM_000642.3(AGL):c.4362T>C (p.Pro1454=) rs886044922 0.00001
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586 0.00001
NM_000642.3(AGL):c.958+12A>G rs1227779911 0.00001
NM_000642.3(AGL):c.1263A>G (p.Arg421=) rs1175506369
NM_000642.3(AGL):c.1326A>G (p.Glu442=) rs886044919
NM_000642.3(AGL):c.1758T>C (p.Ser586=)
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys) rs781127120
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr) rs375755924
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) rs748142986

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