ClinVar Miner

List of variants in gene AGA studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 207
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HGVS dbSNP
NC_000004.11:g.(?_178363393)_(178363667_?)del
NC_000004.12:g.(?_177431688)_(177442395_?)dup
NM_000027.4(AGA):c.*136T>C
NM_000027.4(AGA):c.*13G>C
NM_000027.4(AGA):c.*183A>C rs1061814
NM_000027.4(AGA):c.*207T>C rs546644917
NM_000027.4(AGA):c.*219T>C
NM_000027.4(AGA):c.*220G>C rs12502301
NM_000027.4(AGA):c.*317T>C rs143028069
NM_000027.4(AGA):c.*35G>C
NM_000027.4(AGA):c.*3C>T
NM_000027.4(AGA):c.*457A>G
NM_000027.4(AGA):c.*48G>A rs752452878
NM_000027.4(AGA):c.*635A>G
NM_000027.4(AGA):c.*680G>A rs886059259
NM_000027.4(AGA):c.*718G>A rs72988642
NM_000027.4(AGA):c.*752G>C rs540646864
NM_000027.4(AGA):c.*819_*820CT[2] rs146345347
NM_000027.4(AGA):c.*850C>T rs149021855
NM_000027.4(AGA):c.*851G>A
NM_000027.4(AGA):c.*852C>T rs182081300
NM_000027.4(AGA):c.*856C>G
NM_000027.4(AGA):c.*868C>G rs886059258
NM_000027.4(AGA):c.*882A>C
NM_000027.4(AGA):c.*8T>C rs112307209
NM_000027.4(AGA):c.*915G>A
NM_000027.4(AGA):c.*96A>T rs141424240
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.1030G>C (p.Asp344His) rs776865078
NM_000027.4(AGA):c.105C>G (p.Pro35=) rs199757656
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606
NM_000027.4(AGA):c.115G>A (p.Ala39Thr) rs763326444
NM_000027.4(AGA):c.121G>T (p.Glu41Ter) rs1560952256
NM_000027.4(AGA):c.127+1G>A rs1057516565
NM_000027.4(AGA):c.127+5G>A
NM_000027.4(AGA):c.127+8T>C
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala43_Trp44insAspAla) rs386833418
NM_000027.4(AGA):c.128-2A>G
NM_000027.4(AGA):c.128-7dup
NM_000027.4(AGA):c.129G>A (p.Ala43=)
NM_000027.4(AGA):c.150A>T (p.Gly50=)
NM_000027.4(AGA):c.153C>A (p.Gly51=)
NM_000027.4(AGA):c.153C>T (p.Gly51=)
NM_000027.4(AGA):c.160C>T (p.Leu54=)
NM_000027.4(AGA):c.171G>A (p.Val57=)
NM_000027.4(AGA):c.177C>T (p.Ser59=)
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.192T>A (p.Cys64Ter) rs386833419
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.19T>C (p.Leu7=)
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.204G>A (p.Gln68=)
NM_000027.4(AGA):c.210C>T (p.Asp70=) rs762870187
NM_000027.4(AGA):c.210del (p.Asp70fs)
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer) rs1560950739
NM_000027.4(AGA):c.219A>G (p.Val73=)
NM_000027.4(AGA):c.224T>C (p.Phe75Ser)
NM_000027.4(AGA):c.248G>A (p.Gly83Glu)
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111
NM_000027.4(AGA):c.27G>T (p.Val9=) rs764924616
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.281+1G>T rs1553994812
NM_000027.4(AGA):c.281+8C>T
NM_000027.4(AGA):c.282-9T>G
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
NM_000027.4(AGA):c.28del (p.Leu10fs) rs1057517062
NM_000027.4(AGA):c.299G>A (p.Gly100Glu) rs386833421
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)
NM_000027.4(AGA):c.308_310del (p.Gly103del) rs1553994762
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.334A>G (p.Ile112Val)
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000027.4(AGA):c.33C>T (p.Leu11=) rs763702713
NM_000027.4(AGA):c.346C>T (p.Arg116Trp) rs386833423
NM_000027.4(AGA):c.348G>A (p.Arg116=)
NM_000027.4(AGA):c.34G>C (p.Val12Leu)
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
NM_000027.4(AGA):c.369_373del (p.His124fs) rs386833424
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067
NM_000027.4(AGA):c.376del (p.Leu126fs) rs1553994755
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)
NM_000027.4(AGA):c.394+10T>G
NM_000027.4(AGA):c.394+19_394+20del rs575232762
NM_000027.4(AGA):c.394+7_394+10del
NM_000027.4(AGA):c.395-4C>T
NM_000027.4(AGA):c.395-7T>C
NM_000027.4(AGA):c.395-8A>G rs386833426
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.402A>G (p.Thr134=)
NM_000027.4(AGA):c.404T>C (p.Phe135Ser) rs386833427
NM_000027.4(AGA):c.420G>T (p.Gly140=) rs1579044062
NM_000027.4(AGA):c.432A>G (p.Glu144=)
NM_000027.4(AGA):c.435C>T (p.Asp145=)
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.439T>C (p.Ser147Pro) rs386833428
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119
NM_000027.4(AGA):c.449C>T (p.Ala150Val)
NM_000027.4(AGA):c.44T>G (p.Leu15Arg) rs386833429
NM_000027.4(AGA):c.454C>T (p.Gln152Ter)
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000027.4(AGA):c.48C>A (p.Leu16=)
NM_000027.4(AGA):c.48C>T (p.Leu16=)
NM_000027.4(AGA):c.490C>T (p.Gln164Ter) rs1057517329
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430
NM_000027.4(AGA):c.507+10C>T
NM_000027.4(AGA):c.507+5G>C
NM_000027.4(AGA):c.507+8C>T
NM_000027.4(AGA):c.508-2A>G rs986682657
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)
NM_000027.4(AGA):c.535T>C (p.Cys179Arg)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.537C>T (p.Cys179=)
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451
NM_000027.4(AGA):c.549A>G (p.Lys183=)
NM_000027.4(AGA):c.555_558del (p.Gly186fs)
NM_000027.4(AGA):c.571G>C (p.Asp191His) rs766110192
NM_000027.4(AGA):c.585T>C (p.His195=)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
NM_000027.4(AGA):c.598G>A (p.Asp200Asn)
NM_000027.4(AGA):c.600T>C (p.Asp200=)
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.622+13T>C rs75260482
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-13T>G
NM_000027.4(AGA):c.623-21dup
NM_000027.4(AGA):c.623-2A>G rs1483909684
NM_000027.4(AGA):c.623-6T>C
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.63G>A (p.Val21=)
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431
NM_000027.4(AGA):c.693A>G (p.Ile231Met) rs1579042146
NM_000027.4(AGA):c.698+1G>A rs1057517175
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.698+1del
NM_000027.4(AGA):c.699-7C>T rs886059260
NM_000027.4(AGA):c.705A>G (p.Val235=)
NM_000027.4(AGA):c.70del (p.Ser24fs) rs1057517239
NM_000027.4(AGA):c.738T>C (p.Tyr246=)
NM_000027.4(AGA):c.741T>C (p.Ala247=)
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291
NM_000027.4(AGA):c.750T>C (p.Thr250=)
NM_000027.4(AGA):c.754G>C (p.Gly252Arg) rs386833432
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
NM_000027.4(AGA):c.75C>T (p.Ser25=)
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)
NM_000027.4(AGA):c.780T>C (p.Gly260=)
NM_000027.4(AGA):c.788del (p.Ile262_Leu263insTer) rs386833435
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828
NM_000027.4(AGA):c.800del (p.Leu267fs) rs794728009
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)
NM_000027.4(AGA):c.852A>T (p.Ile284=)
NM_000027.4(AGA):c.854C>T (p.Ala285Val)
NM_000027.4(AGA):c.859C>T (p.Gln287Ter)
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119
NM_000027.4(AGA):c.894A>G (p.Pro298=)
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166
NM_000027.4(AGA):c.904G>A (p.Gly302Arg) rs121964905
NM_000027.4(AGA):c.906G>A (p.Gly302=)
NM_000027.4(AGA):c.90C>T (p.Val30=) rs371130120
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000027.4(AGA):c.92T>C (p.Val31Ala) rs886059263
NM_000027.4(AGA):c.93C>T (p.Val31=) rs922841572
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.940+1G>T rs386833437
NM_000027.4(AGA):c.940+8G>A
NM_000027.4(AGA):c.941-2A>G rs1553993921
NM_000027.4(AGA):c.941-5C>T rs377622082
NM_000027.4(AGA):c.941-7G>T
NM_000027.4(AGA):c.941-8G>T
NM_000027.4(AGA):c.95A>C (p.Asn32Thr) rs886059262
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000027.4(AGA):c.978T>C (p.Phe326=)
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
NM_000027.4(AGA):c.993T>G (p.Tyr331Ter) rs1201784742
NM_000027.4(AGA):c.999C>G (p.Ser333=)
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564
NM_001171988.1(AGA):c.-94G>A rs886059264

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