ClinVar Miner

List of variants in gene AGL reported by Baylor Genetics

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Gene type:
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Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter) rs12118058 0.00011
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157 0.00009
NM_000642.3(AGL):c.188G>A (p.Arg63His) rs199958942 0.00006
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser) rs150532164 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947 0.00002
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050 0.00001
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006 0.00001
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128 0.00001
NM_000642.3(AGL):c.1571G>A (p.Arg524His) rs758182700 0.00001
NM_000642.3(AGL):c.1735+1G>T rs199922945 0.00001
NM_000642.3(AGL):c.1783C>T (p.Arg595Ter) rs765367405 0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454 0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter) rs1057516870 0.00001
NM_000642.3(AGL):c.2309-1G>A rs786204481 0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419 0.00001
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243 0.00001
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980 0.00001
NM_000642.3(AGL):c.3350dup (p.Tyr1117Ter) rs1432024176 0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.3836+1G>A rs780883601 0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508 0.00001
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000642.3(AGL):c.685C>T (p.Gln229Ter) rs971749992 0.00001
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010 0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter) rs145362161 0.00001
NM_000642.3(AGL):c.94C>T (p.Gln32Ter) rs786204489 0.00001
NM_000642.3(AGL):c.100del (p.Arg34fs)
NM_000642.3(AGL):c.1041dup (p.Val348fs) rs2101126325
NM_000642.3(AGL):c.104T>G (p.Leu35Ter) rs1057516567
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro) rs750705888
NM_000642.3(AGL):c.1148C>G (p.Ser383Ter)
NM_000642.3(AGL):c.1243A>T (p.Lys415Ter) rs2101128697
NM_000642.3(AGL):c.1283+2T>C
NM_000642.3(AGL):c.1284-1G>A
NM_000642.3(AGL):c.1284-2A>G rs1651536973
NM_000642.3(AGL):c.1298_1299del (p.Pro433fs)
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr) rs149771710
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1423+1G>A
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter) rs140095668
NM_000642.3(AGL):c.1447G>T (p.Glu483Ter)
NM_000642.3(AGL):c.1517G>A (p.Trp506Ter)
NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.1612-1G>A rs1327892944
NM_000642.3(AGL):c.1637T>A (p.Leu546Ter)
NM_000642.3(AGL):c.1680_1683dup (p.Asp562Ter)
NM_000642.3(AGL):c.1688delinsGA (p.Leu563fs) rs1651876879
NM_000642.3(AGL):c.1735+5G>A
NM_000642.3(AGL):c.1788T>G (p.Tyr596Ter) rs777871903
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.193_194del (p.Leu65fs)
NM_000642.3(AGL):c.1942dup (p.Ser648fs) rs2100758555
NM_000642.3(AGL):c.1998del (p.Gln667fs)
NM_000642.3(AGL):c.2034del (p.Lys679fs)
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.214_215del (p.Glu72fs) rs754978531
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter) rs1652018859
NM_000642.3(AGL):c.2207C>A (p.Ser736Ter)
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer) rs767346840
NM_000642.3(AGL):c.2349_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2351_2352del (p.Arg784fs)
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.251dup (p.Asn84fs) rs756175624
NM_000642.3(AGL):c.2538dup (p.Ile847fs) rs1057516984
NM_000642.3(AGL):c.2546+1G>T
NM_000642.3(AGL):c.2670del (p.Pro891fs) rs764591009
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2690_2691dup (p.Arg898fs)
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter) rs767529587
NM_000642.3(AGL):c.2812+1G>C
NM_000642.3(AGL):c.2869del (p.Cys957fs)
NM_000642.3(AGL):c.2905dup (p.Tyr969fs) rs1652879873
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly) rs1211367569
NM_000642.3(AGL):c.293+1G>T
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu) rs147977213
NM_000642.3(AGL):c.294-1G>C rs757967016
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.2950-1G>A rs1057516793
NM_000642.3(AGL):c.296del (p.Asn99fs)
NM_000642.3(AGL):c.2989C>T (p.Gln997Ter)
NM_000642.3(AGL):c.3011del (p.Pro1004fs) rs1057516306
NM_000642.3(AGL):c.3083+1G>T
NM_000642.3(AGL):c.3084-1G>A
NM_000642.3(AGL):c.3091C>T (p.Gln1031Ter)
NM_000642.3(AGL):c.3204_3205dup (p.Arg1069fs)
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3238del (p.Cys1080fs)
NM_000642.3(AGL):c.3259+1G>C
NM_000642.3(AGL):c.3287dup (p.Arg1097fs)
NM_000642.3(AGL):c.3362+1G>A rs1553189468
NM_000642.3(AGL):c.3362+2T>C rs2100804114
NM_000642.3(AGL):c.3362G>A (p.Arg1121Lys) rs1653326843
NM_000642.3(AGL):c.3481_3589-405del
NM_000642.3(AGL):c.3588_3588+14del
NM_000642.3(AGL):c.3589-3C>G rs1653935585
NM_000642.3(AGL):c.3630del (p.Lys1210fs) rs1653938652
NM_000642.3(AGL):c.3639G>C (p.Gln1213His) rs1213904866
NM_000642.3(AGL):c.3662del (p.Asn1221fs)
NM_000642.3(AGL):c.3665del (p.Ala1222fs)
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg) rs749118487
NM_000642.3(AGL):c.36_37insCG (p.Asn13fs) rs762545015
NM_000642.3(AGL):c.3701-2A>G
NM_000642.3(AGL):c.3733del (p.Thr1245fs)
NM_000642.3(AGL):c.3745del (p.Tyr1249fs)
NM_000642.3(AGL):c.378T>A (p.Cys126Ter) rs1553183359
NM_000642.3(AGL):c.3882dup (p.Arg1295fs)
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3949+1G>C
NM_000642.3(AGL):c.3972T>G (p.Tyr1324Ter)
NM_000642.3(AGL):c.4100del (p.Gly1367fs) rs777120567
NM_000642.3(AGL):c.4115G>A (p.Trp1372Ter) rs1183383313
NM_000642.3(AGL):c.4162-1G>A rs1490339052
NM_000642.3(AGL):c.4162-5_4162-1delinsCTAGTGAAT
NM_000642.3(AGL):c.4193G>A (p.Trp1398Ter) rs1344484845
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4255_4259+150del
NM_000642.3(AGL):c.4256dup (p.Asp1420fs)
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.4422del (p.Ala1475fs) rs1286364615
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4481+2T>G rs1553193530
NM_000642.3(AGL):c.4490G>A (p.Trp1497Ter)
NM_000642.3(AGL):c.471del (p.Met157fs)
NM_000642.3(AGL):c.506_507insA (p.Ser169_Arg170insTer)
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706
NM_000642.3(AGL):c.538G>T (p.Glu180Ter)
NM_000642.3(AGL):c.557C>G (p.Ser186Ter)
NM_000642.3(AGL):c.604del (p.Glu202fs)
NM_000642.3(AGL):c.619del (p.Glu207fs)
NM_000642.3(AGL):c.665-2A>G
NM_000642.3(AGL):c.672dup (p.Ser225Ter) rs1057516471
NM_000642.3(AGL):c.743G>A (p.Trp248Ter)
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.809dup (p.Ile271fs)
NM_000642.3(AGL):c.83-2A>G
NM_000642.3(AGL):c.861_864del (p.Ile288fs) rs1571243699
NM_000642.3(AGL):c.947_948del (p.Leu316fs) rs1650934988
NM_000642.3(AGL):c.958+1G>C
NM_000642.3(AGL):c.967C>T (p.Arg323Ter) rs757987101

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