ClinVar Miner

List of variants in gene AGL studied for not specified

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Gene type:
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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_000642.3(AGL):c.959-18G>A rs634880 0.73702
NM_000642.3(AGL):c.3259+37G>A rs594249 0.65860
NM_000642.3(AGL):c.2812+11G>A rs555929 0.65828
NM_000642.3(AGL):c.2001+8T>C rs3736296 0.51012
NM_000642.3(AGL):c.2950-21T>A rs2035961 0.48240
NM_000642.3(AGL):c.3836+45G>A rs2274570 0.46505
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000642.3(AGL):c.1424-44A>G rs2291638 0.29229
NM_000642.3(AGL):c.83-33C>T rs2307129 0.24077
NM_000642.3(AGL):c.3199C>T (p.Pro1067Ser) rs3753494 0.13698
NM_000642.3(AGL):c.3343G>A (p.Gly1115Arg) rs2230307 0.05399
NM_000642.3(AGL):c.3700+32T>C rs834575 0.05338
NM_000642.3(AGL):c.686A>G (p.Gln229Arg) rs17121403 0.04398
NM_000642.3(AGL):c.3588+36T>G rs548255 0.01966
NM_000642.3(AGL):c.1185+15T>C rs17121466 0.01894
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_000642.3(AGL):c.207T>C (p.Asn69=) rs2230305 0.01529
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_000642.3(AGL):c.2885C>G (p.Ser962Cys) rs34714252 0.01465
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464 0.01447
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
NM_000642.3(AGL):c.1612-24C>A rs115666491 0.01263
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139 0.00515
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_000642.3(AGL):c.3260-20T>C rs17121560 0.00332
NM_000642.3(AGL):c.2546+10T>C rs74551473 0.00212
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
NM_000642.3(AGL):c.2949+20C>T rs201729914 0.00114
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_000642.3(AGL):c.3589-19C>T rs368244330 0.00034
NM_000642.3(AGL):c.83-34A>G rs200998407 0.00030
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_000642.3(AGL):c.3700+14A>G rs368141566 0.00016
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 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.341G>A (p.Arg114His) rs150146360 0.00011
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929 0.00009
NM_000642.3(AGL):c.3696C>T (p.Asp1232=) rs143076729 0.00009
NM_000642.3(AGL):c.-76C>G rs888498974 0.00007
NM_000642.3(AGL):c.4164C>G (p.Ala1388=) rs142809832 0.00007
NM_000642.3(AGL):c.103T>C (p.Leu35=) rs370307706 0.00006
NM_000642.3(AGL):c.293+3A>G rs375459662 0.00006
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606 0.00005
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652 0.00004
NM_000642.3(AGL):c.-69+11G>C rs1057523356 0.00003
NM_000642.3(AGL):c.2814T>G (p.Gly938=) rs147590282 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_000642.3(AGL):c.1900-6T>C rs749096703 0.00002
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947 0.00002
NM_000642.3(AGL):c.3836+3A>G rs372921189 0.00002
NM_000642.3(AGL):c.4539C>T (p.Phe1513=) rs752519483 0.00002
NM_000642.3(AGL):c.959-15T>C rs1159446395 0.00002
NM_000642.3(AGL):c.1062A>G (p.Leu354=) rs1165052196 0.00001
NM_000642.3(AGL):c.1082+4T>A rs781204563 0.00001
NM_000642.3(AGL):c.1612-10C>G rs1057524368 0.00001
NM_000642.3(AGL):c.2337T>C (p.Ala779=) rs928189171 0.00001
NM_000642.3(AGL):c.3741T>C (p.Phe1247=) rs1279212438 0.00001
NM_000642.3(AGL):c.413G>A (p.Gly138Glu) rs773384152 0.00001
GRCh37/hg19 1p21.2(chr1:100345603-100352899)
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.2001+8_2001+9delinsCT rs1064794512
NM_000642.3(AGL):c.2158-18_2158-16del rs770934299
NM_000642.3(AGL):c.2308+16A>G rs1553186633
NM_000642.3(AGL):c.2434-19del rs1553187226
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu) rs569268763
NM_000642.3(AGL):c.3701-5T>G rs1057523410
NM_000642.3(AGL):c.4119T>C (p.Cys1373=) rs1057521342
NM_000642.3(AGL):c.4161+11C>G rs886038361
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000642.3(AGL):c.4162-12G>C rs755337032
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
NM_000642.3(AGL):c.4290T>C (p.Asn1430=) rs886038362
NM_000642.3(AGL):c.4482-18G>A rs1057521645
NM_000642.3(AGL):c.4482-19T>C rs370127763
NM_000642.3(AGL):c.4514del (p.Asn1505fs) rs2100901643
NM_000642.3(AGL):c.847-20dup rs771807071
NM_000642.3(AGL):c.954A>G (p.Thr318=) rs1057523817
NM_000642.3(AGL):c.959-53A>T rs184400307
NM_000642.3(AGL):c.959-61_959-60insTGACAGTTATAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG rs1064794576
NM_000642.3(AGL):c.965_966insTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCATCTTTTCTTTCTTTTAGAAAATAG

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