ClinVar Miner

List of variants in gene AGA reported as likely benign for Aspartylglucosaminuria

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Gene type:
ClinVar version:
Total variants: 232
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HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000027.4(AGA):c.941-5C>T rs377622082 0.00014
NM_000027.4(AGA):c.698+20C>T rs753356588 0.00012
NM_000027.4(AGA):c.109A>G (p.Lys37Glu) rs766776902 0.00010
NM_000027.4(AGA):c.150A>T (p.Gly50=) rs143210437 0.00009
NM_000027.4(AGA):c.127+13G>A rs376430029 0.00007
NM_000027.4(AGA):c.105C>G (p.Pro35=) rs199757656 0.00006
NM_000027.4(AGA):c.623-13T>G rs778434616 0.00006
NM_000027.4(AGA):c.282-6T>C rs749661341 0.00005
NM_000027.4(AGA):c.623-6T>C rs753309242 0.00005
NM_000027.4(AGA):c.75C>T (p.Ser25=) rs146683705 0.00005
NM_000027.4(AGA):c.127+16C>T rs745840548 0.00004
NM_000027.4(AGA):c.128-18T>C rs367922948 0.00004
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111 0.00004
NM_000027.4(AGA):c.281+12G>A rs754261269 0.00004
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868 0.00004
NM_000027.4(AGA):c.696T>C (p.His232=) rs1211143576 0.00003
NM_000027.4(AGA):c.129G>A (p.Ala43=) rs780842670 0.00002
NM_000027.4(AGA):c.171G>A (p.Val57=) rs750795098 0.00002
NM_000027.4(AGA):c.210C>T (p.Asp70=) rs762870187 0.00002
NM_000027.4(AGA):c.27G>T (p.Val9=) rs764924616 0.00002
NM_000027.4(AGA):c.698+10T>C rs756908895 0.00002
NM_000027.4(AGA):c.738T>C (p.Tyr246=) rs758804988 0.00002
NM_000027.4(AGA):c.128-14G>A rs769452319 0.00001
NM_000027.4(AGA):c.153C>T (p.Gly51=) rs1404115808 0.00001
NM_000027.4(AGA):c.160C>T (p.Leu54=) rs992715539 0.00001
NM_000027.4(AGA):c.177C>T (p.Ser59=) rs757480668 0.00001
NM_000027.4(AGA):c.204G>A (p.Gln68=) rs373209495 0.00001
NM_000027.4(AGA):c.219A>G (p.Val73=) rs999695070 0.00001
NM_000027.4(AGA):c.281+18G>A rs376346895 0.00001
NM_000027.4(AGA):c.394+10T>G rs781210455 0.00001
NM_000027.4(AGA):c.395-4C>T rs530298258 0.00001
NM_000027.4(AGA):c.402A>G (p.Thr134=) rs770449168 0.00001
NM_000027.4(AGA):c.507+8C>T rs1371366618 0.00001
NM_000027.4(AGA):c.600T>C (p.Asp200=) rs777128985 0.00001
NM_000027.4(AGA):c.636C>T (p.Ile212=) rs1384548395 0.00001
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261 0.00001
NM_000027.4(AGA):c.699-5C>T rs1324665450 0.00001
NM_000027.4(AGA):c.705A>G (p.Val235=) rs150175428 0.00001
NM_000027.4(AGA):c.807-15C>T rs746561546 0.00001
NM_000027.4(AGA):c.837A>C (p.Gly279=) rs368840965 0.00001
NM_000027.4(AGA):c.894A>G (p.Pro298=) rs760082787 0.00001
NM_000027.4(AGA):c.90C>T (p.Val30=) rs371130120 0.00001
NM_000027.4(AGA):c.918T>C (p.Cys306=) rs749698472 0.00001
NM_000027.4(AGA):c.93C>T (p.Val31=) rs922841572 0.00001
NM_000027.4(AGA):c.941-8G>T rs1458091976 0.00001
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564 0.00001
NM_000027.4(AGA):c.1017T>G (p.Thr339=) rs2111004518
NM_000027.4(AGA):c.1038C>A (p.Ile346=)
NM_000027.4(AGA):c.105C>T (p.Pro35=) rs199757656
NM_000027.4(AGA):c.120C>A (p.Thr40=) rs1560952259
NM_000027.4(AGA):c.120C>T (p.Thr40=) rs1560952259
NM_000027.4(AGA):c.127+11G>A
NM_000027.4(AGA):c.127+12C>T
NM_000027.4(AGA):c.127+14G>A
NM_000027.4(AGA):c.127+15C>T
NM_000027.4(AGA):c.127+16C>G
NM_000027.4(AGA):c.127+8T>C rs1227443826
NM_000027.4(AGA):c.127+9T>C
NM_000027.4(AGA):c.128-14G>C
NM_000027.4(AGA):c.128-18T>A
NM_000027.4(AGA):c.128-19A>G
NM_000027.4(AGA):c.128-7dup rs1736960600
NM_000027.4(AGA):c.135G>A (p.Arg45=)
NM_000027.4(AGA):c.153C>A (p.Gly51=) rs1404115808
NM_000027.4(AGA):c.159C>G (p.Ala53=)
NM_000027.4(AGA):c.15G>A (p.Ser5=) rs777972773
NM_000027.4(AGA):c.15G>T (p.Ser5=)
NM_000027.4(AGA):c.165T>C (p.Asp55=)
NM_000027.4(AGA):c.168A>C (p.Ala56=) rs2111021852
NM_000027.4(AGA):c.168A>G (p.Ala56=)
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.19T>C (p.Leu7=) rs2111028551
NM_000027.4(AGA):c.216T>C (p.Ser72=)
NM_000027.4(AGA):c.222C>T (p.Gly74=)
NM_000027.4(AGA):c.240T>C (p.Asp80=)
NM_000027.4(AGA):c.24T>G (p.Pro8=) rs34413111
NM_000027.4(AGA):c.259C>T (p.Leu87=)
NM_000027.4(AGA):c.27G>C (p.Val9=) rs764924616
NM_000027.4(AGA):c.281+11C>T
NM_000027.4(AGA):c.281+15C>G
NM_000027.4(AGA):c.281+18G>T rs376346895
NM_000027.4(AGA):c.281+8C>T rs2111021417
NM_000027.4(AGA):c.281+9A>G rs2111021413
NM_000027.4(AGA):c.282-10T>C rs2111020138
NM_000027.4(AGA):c.282-12A>G
NM_000027.4(AGA):c.282-17A>T
NM_000027.4(AGA):c.282-19G>A
NM_000027.4(AGA):c.282-9T>G rs2111020136
NM_000027.4(AGA):c.306A>T (p.Val102=)
NM_000027.4(AGA):c.319C>A (p.Arg107=) rs765070743
NM_000027.4(AGA):c.330T>C (p.Asn110=)
NM_000027.4(AGA):c.33C>T (p.Leu11=) rs763702713
NM_000027.4(AGA):c.348G>A (p.Arg116=) rs2111019818
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+13C>T
NM_000027.4(AGA):c.394+14T>C
NM_000027.4(AGA):c.394+18C>G
NM_000027.4(AGA):c.394+18C>T
NM_000027.4(AGA):c.394+20_394+21del
NM_000027.4(AGA):c.394+7_394+10del rs761207366
NM_000027.4(AGA):c.394+9T>C
NM_000027.4(AGA):c.395-11C>G
NM_000027.4(AGA):c.395-14T>A
NM_000027.4(AGA):c.395-4C>G
NM_000027.4(AGA):c.395-5T>C
NM_000027.4(AGA):c.395-6C>A
NM_000027.4(AGA):c.395-7T>C rs2111018312
NM_000027.4(AGA):c.395-9A>T
NM_000027.4(AGA):c.402A>C (p.Thr134=)
NM_000027.4(AGA):c.411A>G (p.Gln137=)
NM_000027.4(AGA):c.420G>T (p.Gly140=) rs1579044062
NM_000027.4(AGA):c.426C>T (p.Ile142=)
NM_000027.4(AGA):c.432A>G (p.Glu144=) rs2111018169
NM_000027.4(AGA):c.435C>T (p.Asp145=) rs199682344
NM_000027.4(AGA):c.43C>T (p.Leu15=) rs149921310
NM_000027.4(AGA):c.453T>C (p.Ser151=)
NM_000027.4(AGA):c.45G>T (p.Leu15=)
NM_000027.4(AGA):c.471T>C (p.Asp157=)
NM_000027.4(AGA):c.489C>T (p.Cys163=)
NM_000027.4(AGA):c.48C>A (p.Leu16=) rs749548544
NM_000027.4(AGA):c.48C>T (p.Leu16=) rs749548544
NM_000027.4(AGA):c.501T>C (p.Tyr167=)
NM_000027.4(AGA):c.507+10C>T rs1190000409
NM_000027.4(AGA):c.507+11A>T
NM_000027.4(AGA):c.507+20A>T
NM_000027.4(AGA):c.507+7A>G rs2111017976
NM_000027.4(AGA):c.507+9A>T
NM_000027.4(AGA):c.508-14A>C
NM_000027.4(AGA):c.508-16T>A
NM_000027.4(AGA):c.508-16T>G
NM_000027.4(AGA):c.508-18C>G rs762450535
NM_000027.4(AGA):c.508-18C>T
NM_000027.4(AGA):c.508-7T>C
NM_000027.4(AGA):c.510T>C (p.Asn170=) rs1736864324
NM_000027.4(AGA):c.528A>G (p.Ser176=)
NM_000027.4(AGA):c.534C>T (p.Tyr178=)
NM_000027.4(AGA):c.537C>T (p.Cys179=) rs748171793
NM_000027.4(AGA):c.540A>C (p.Gly180=)
NM_000027.4(AGA):c.543C>A (p.Pro181=)
NM_000027.4(AGA):c.549A>G (p.Lys183=) rs2111015751
NM_000027.4(AGA):c.552A>C (p.Pro184=)
NM_000027.4(AGA):c.552A>G (p.Pro184=)
NM_000027.4(AGA):c.570G>A (p.Gln190=) rs111633694
NM_000027.4(AGA):c.57C>G (p.Ala19=)
NM_000027.4(AGA):c.57C>T (p.Ala19=) rs1737062444
NM_000027.4(AGA):c.582C>A (p.Ile194=)
NM_000027.4(AGA):c.585T>C (p.His195=) rs1736860088
NM_000027.4(AGA):c.58C>T (p.Leu20=) rs758423275
NM_000027.4(AGA):c.622+9_622+15dup
NM_000027.4(AGA):c.623-17T>C
NM_000027.4(AGA):c.623-18T>G rs2111013629
NM_000027.4(AGA):c.623-4C>G
NM_000027.4(AGA):c.623-9A>C rs1388029418
NM_000027.4(AGA):c.624C>T (p.Gly208=)
NM_000027.4(AGA):c.63G>A (p.Val21=) rs1737061654
NM_000027.4(AGA):c.66C>T (p.Arg22=)
NM_000027.4(AGA):c.687C>T (p.Phe229=)
NM_000027.4(AGA):c.698+11C>A
NM_000027.4(AGA):c.698+13A>G
NM_000027.4(AGA):c.698+14A>G
NM_000027.4(AGA):c.698+19A>C
NM_000027.4(AGA):c.699-11C>A
NM_000027.4(AGA):c.699-11C>T
NM_000027.4(AGA):c.699-12A>G
NM_000027.4(AGA):c.699-17T>C
NM_000027.4(AGA):c.699-9C>G
NM_000027.4(AGA):c.699-9C>T
NM_000027.4(AGA):c.708A>G (p.Gly236=) rs2111009301
NM_000027.4(AGA):c.711C>T (p.Asp237=)
NM_000027.4(AGA):c.723T>G (p.Pro241=)
NM_000027.4(AGA):c.72C>T (p.Ser24=)
NM_000027.4(AGA):c.741T>C (p.Ala247=) rs2111009204
NM_000027.4(AGA):c.750T>C (p.Thr250=) rs2111009153
NM_000027.4(AGA):c.756G>A (p.Gly252=) rs2111009133
NM_000027.4(AGA):c.756G>T (p.Gly252=)
NM_000027.4(AGA):c.771T>G (p.Thr257=) rs1736734050
NM_000027.4(AGA):c.774G>C (p.Gly258=)
NM_000027.4(AGA):c.780T>C (p.Gly260=) rs1579040275
NM_000027.4(AGA):c.787T>C (p.Leu263=)
NM_000027.4(AGA):c.789G>A (p.Leu263=) rs2111008977
NM_000027.4(AGA):c.795C>T (p.Arg265=) rs2111008931
NM_000027.4(AGA):c.79C>T (p.Leu27=)
NM_000027.4(AGA):c.801G>T (p.Leu267=) rs1736730616
NM_000027.4(AGA):c.806+11T>G
NM_000027.4(AGA):c.806+12T>A
NM_000027.4(AGA):c.806+13dup
NM_000027.4(AGA):c.806+14G>C
NM_000027.4(AGA):c.806+19T>C
NM_000027.4(AGA):c.806+20G>A
NM_000027.4(AGA):c.806+7C>A
NM_000027.4(AGA):c.807-11G>C
NM_000027.4(AGA):c.807-17A>C
NM_000027.4(AGA):c.807-8T>A
NM_000027.4(AGA):c.810C>T (p.Tyr270=)
NM_000027.4(AGA):c.816T>C (p.Ala272=)
NM_000027.4(AGA):c.81G>T (p.Leu27=)
NM_000027.4(AGA):c.822A>G (p.Glu274=) rs2111007039
NM_000027.4(AGA):c.84C>T (p.Pro28=) rs182442304
NM_000027.4(AGA):c.852A>T (p.Ile284=) rs540397394
NM_000027.4(AGA):c.867G>C (p.Val289=)
NM_000027.4(AGA):c.870T>C (p.Ile290=)
NM_000027.4(AGA):c.879C>T (p.Ile293=)
NM_000027.4(AGA):c.897A>G (p.Glu299=) rs2111006864
NM_000027.4(AGA):c.906G>A (p.Gly302=) rs2111006840
NM_000027.4(AGA):c.90C>G (p.Val30=)
NM_000027.4(AGA):c.936T>C (p.Ser312=)
NM_000027.4(AGA):c.940+13T>C
NM_000027.4(AGA):c.940+20T>C
NM_000027.4(AGA):c.940+8G>A rs2111006715
NM_000027.4(AGA):c.940+8G>T rs2111006715
NM_000027.4(AGA):c.940+9T>C rs2111006710
NM_000027.4(AGA):c.941-17C>T
NM_000027.4(AGA):c.941-20T>C
NM_000027.4(AGA):c.941-7G>T rs748346003
NM_000027.4(AGA):c.948T>C (p.Ala316=)
NM_000027.4(AGA):c.960T>G (p.Leu320=)
NM_000027.4(AGA):c.966A>G (p.Thr322=) rs753625719
NM_000027.4(AGA):c.978T>C (p.Phe326=) rs373878347
NM_000027.4(AGA):c.999C>G (p.Ser333=) rs1479579564
NM_000027.4(AGA):c.99T>C (p.Thr33=) rs2111028048

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