ClinVar Miner

List of variants in gene AGL studied for Inborn genetic diseases

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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395 0.00125
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
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.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554 0.00021
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049 0.00020
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr) rs138823746 0.00016
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) rs41285740 0.00016
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099 0.00014
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636 0.00014
NM_000642.3(AGL):c.341G>A (p.Arg114His) rs150146360 0.00011
NM_000642.3(AGL):c.1321A>G (p.Met441Val) rs753035763 0.00010
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543 0.00010
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213 0.00009
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) rs370797337 0.00009
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157 0.00009
NM_000642.3(AGL):c.1423+3A>G rs766117687 0.00008
NM_000642.3(AGL):c.3116A>T (p.His1039Leu) rs1430797073 0.00008
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875 0.00008
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser) rs909008103 0.00006
NM_000642.3(AGL):c.188G>A (p.Arg63His) rs199958942 0.00006
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002 0.00006
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) rs149914040 0.00006
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089 0.00006
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) rs774708890 0.00006
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg) rs752502818 0.00005
NM_000642.3(AGL):c.1049T>C (p.Met350Thr) rs761122742 0.00004
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe) rs140002583 0.00004
NM_000642.3(AGL):c.841A>G (p.Met281Val) rs185838959 0.00004
NM_000642.3(AGL):c.1042G>A (p.Val348Ile) rs544658310 0.00003
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln) rs752153469 0.00003
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys) rs773625464 0.00003
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244 0.00003
NM_000642.3(AGL):c.1187C>T (p.Ala396Val) rs747879201 0.00002
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile) rs897697440 0.00002
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys) rs768133891 0.00002
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys) rs775949246 0.00001
NM_000642.3(AGL):c.187C>T (p.Arg63Cys) rs778524671 0.00001
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser) rs773274876 0.00001
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys) rs780205320 0.00001
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr) rs776037609 0.00001
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) rs560703902 0.00001
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val) rs752877022 0.00001
NM_000642.3(AGL):c.515G>C (p.Cys172Ser) rs766234642 0.00001
NM_000642.3(AGL):c.818C>G (p.Ala273Gly) rs943273443 0.00001
NM_000642.3(AGL):c.1000dup (p.Thr334fs) rs1553185302
NM_000642.3(AGL):c.122G>A (p.Gly41Glu)
NM_000642.3(AGL):c.1319C>T (p.Ser440Phe) rs149771710
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg) rs146493448
NM_000642.3(AGL):c.1507C>T (p.Pro503Ser)
NM_000642.3(AGL):c.1631G>C (p.Arg544Thr)
NM_000642.3(AGL):c.1686T>G (p.Asp562Glu)
NM_000642.3(AGL):c.1781A>G (p.Tyr594Cys)
NM_000642.3(AGL):c.1823G>A (p.Cys608Tyr) rs1317587334
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys) rs781127120
NM_000642.3(AGL):c.1918G>T (p.Ala640Ser)
NM_000642.3(AGL):c.2036del (p.Lys679fs) rs2100759432
NM_000642.3(AGL):c.2283G>T (p.Lys761Asn)
NM_000642.3(AGL):c.2567C>G (p.Ala856Gly)
NM_000642.3(AGL):c.2659A>G (p.Ile887Val)
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg) rs1010866326
NM_000642.3(AGL):c.2998C>T (p.Arg1000Cys)
NM_000642.3(AGL):c.3038G>A (p.Gly1013Asp)
NM_000642.3(AGL):c.3079T>G (p.Ser1027Ala)
NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)
NM_000642.3(AGL):c.3347G>A (p.Arg1116His) rs746779518
NM_000642.3(AGL):c.3353T>G (p.Val1118Gly)
NM_000642.3(AGL):c.3428G>T (p.Gly1143Val)
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3613C>G (p.Gln1205Glu) rs775498547
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val) rs765807203
NM_000642.3(AGL):c.3845C>G (p.Ser1282Cys) rs1654811795
NM_000642.3(AGL):c.3865C>A (p.Leu1289Met)
NM_000642.3(AGL):c.3923A>G (p.Tyr1308Cys)
NM_000642.3(AGL):c.3956C>G (p.Ala1319Gly) rs756393699
NM_000642.3(AGL):c.4083A>G (p.Ile1361Met) rs897156043
NM_000642.3(AGL):c.4136C>A (p.Pro1379His)
NM_000642.3(AGL):c.4282T>C (p.Tyr1428His)
NM_000642.3(AGL):c.4378C>T (p.Arg1460Cys)
NM_000642.3(AGL):c.4421C>T (p.Thr1474Ile)
NM_000642.3(AGL):c.4433T>C (p.Ile1478Thr)
NM_000642.3(AGL):c.4539C>G (p.Phe1513Leu)
NM_000642.3(AGL):c.517T>C (p.Tyr173His)
NM_000642.3(AGL):c.833A>G (p.Asp278Gly)
NM_000642.3(AGL):c.994C>T (p.His332Tyr)

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