ClinVar Miner

List of variants reported as uncertain significance for Aspartylglucosaminuria

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ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.622+13T>C rs75260482 0.01039
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_000027.4(AGA):c.*220G>C rs12502301 0.00696
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00453
NM_000027.4(AGA):c.*850C>T rs149021855 0.00370
NM_000027.4(AGA):c.*718G>A rs72988642 0.00364
NM_000027.4(AGA):c.*8T>C rs112307209 0.00255
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.675T>C (p.Asn225=) rs138699617 0.00121
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000027.4(AGA):c.*852C>T rs182081300 0.00096
NM_000027.4(AGA):c.*457A>G rs3749478 0.00087
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00078
NM_000027.4(AGA):c.*96A>T rs141424240 0.00076
NM_000027.4(AGA):c.*752G>C rs540646864 0.00042
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000027.4(AGA):c.*317T>C rs143028069 0.00034
NM_000027.4(AGA):c.792G>A (p.Met264Ile) rs369967348 0.00034
NM_000027.4(AGA):c.979A>G (p.Ser327Gly) rs369035792 0.00029
NM_000027.4(AGA):c.*136T>C rs184905324 0.00028
NM_000027.4(AGA):c.806+3A>G rs368144874 0.00028
NM_000027.4(AGA):c.*219T>C rs755458807 0.00019
NM_000027.4(AGA):c.286A>T (p.Thr96Ser) rs184672077 0.00019
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00014
NM_000027.4(AGA):c.941-5C>T rs377622082 0.00014
NM_000027.4(AGA):c.109A>G (p.Lys37Glu) rs766776902 0.00010
NM_000027.4(AGA):c.*207T>C rs546644917 0.00006
NM_000027.4(AGA):c.523C>T (p.Pro175Ser) rs367968495 0.00006
NM_000027.4(AGA):c.623-13T>G rs778434616 0.00006
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828 0.00006
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111 0.00004
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451 0.00004
NM_000027.4(AGA):c.854C>T (p.Ala285Val) rs763018918 0.00003
NM_000027.4(AGA):c.598G>A (p.Asp200Asn) rs761243441 0.00002
NM_000027.4(AGA):c.987G>C (p.Met329Ile) rs774051527 0.00002
NM_000027.3(AGA):c.-94G>A rs886059264 0.00001
NM_000027.4(AGA):c.*48G>A rs752452878 0.00001
NM_000027.4(AGA):c.*635A>G rs1175193567 0.00001
NM_000027.4(AGA):c.*868C>G rs886059258 0.00001
NM_000027.4(AGA):c.1030G>C (p.Asp344His) rs776865078 0.00001
NM_000027.4(AGA):c.115G>A (p.Ala39Thr) rs763326444 0.00001
NM_000027.4(AGA):c.167C>T (p.Ala56Val) rs758886928 0.00001
NM_000027.4(AGA):c.178G>A (p.Gly60Ser) rs1489211352 0.00001
NM_000027.4(AGA):c.28C>G (p.Leu10Val) rs753394137 0.00001
NM_000027.4(AGA):c.362A>G (p.His121Arg) rs1282622869 0.00001
NM_000027.4(AGA):c.38C>T (p.Pro13Leu) rs759832068 0.00001
NM_000027.4(AGA):c.390G>C (p.Glu130Asp) rs770240412 0.00001
NM_000027.4(AGA):c.515T>C (p.Ile172Thr) rs745924498 0.00001
NM_000027.4(AGA):c.574A>G (p.Ile192Val) rs189159117 0.00001
NM_000027.4(AGA):c.604C>T (p.Arg202Cys) rs764539498 0.00001
NM_000027.4(AGA):c.649C>T (p.His217Tyr) rs763070208 0.00001
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261 0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434 0.00001
NM_000027.4(AGA):c.776A>G (p.Asn259Ser) rs1306999394 0.00001
NM_000027.4(AGA):c.785T>C (p.Ile262Thr) rs772697272 0.00001
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys) rs1254844989 0.00001
NM_000027.4(AGA):c.92T>C (p.Val31Ala) rs886059263 0.00001
NM_000027.4(AGA):c.940G>A (p.Gly314Ser) rs149870867 0.00001
NC_000004.11:g.(?_178352862)_(178363529_?)dup
NC_000004.12:g.(?_177431688)_(177442395_?)dup
NM_000027.3(AGA):c.-127_-123delGGGAC rs886059265
NM_000027.4(AGA):c.*13G>C rs1736640377
NM_000027.4(AGA):c.*35G>C rs767154296
NM_000027.4(AGA):c.*3C>T rs1736640740
NM_000027.4(AGA):c.*680G>A rs886059259
NM_000027.4(AGA):c.*819CT[2] rs146345347
NM_000027.4(AGA):c.*851G>A rs186184411
NM_000027.4(AGA):c.*856C>G rs1736607561
NM_000027.4(AGA):c.*915G>A rs745380599
NM_000027.4(AGA):c.1000G>A (p.Glu334Lys)
NM_000027.4(AGA):c.1000G>T (p.Glu334Ter)
NM_000027.4(AGA):c.1006A>C (p.Asn336His) rs151105390
NM_000027.4(AGA):c.1007del (p.Asn336fs)
NM_000027.4(AGA):c.1007dup (p.Asn336fs)
NM_000027.4(AGA):c.1033T>C (p.Cys345Arg)
NM_000027.4(AGA):c.104C>T (p.Pro35Leu)
NM_000027.4(AGA):c.127+5G>A rs1327701669
NM_000027.4(AGA):c.128-7dup rs1736960600
NM_000027.4(AGA):c.128C>T (p.Ala43Val)
NM_000027.4(AGA):c.14C>T (p.Ser5Leu)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.197G>C (p.Arg66Thr)
NM_000027.4(AGA):c.224T>C (p.Phe75Ser) rs757065230
NM_000027.4(AGA):c.230G>A (p.Gly77Glu)
NM_000027.4(AGA):c.238G>C (p.Asp80His)
NM_000027.4(AGA):c.243A>T (p.Glu81Asp)
NM_000027.4(AGA):c.248G>A (p.Gly83Glu) rs903884327
NM_000027.4(AGA):c.276G>A (p.Met92Ile)
NM_000027.4(AGA):c.279T>A (p.Asp93Glu)
NM_000027.4(AGA):c.280G>C (p.Gly94Arg)
NM_000027.4(AGA):c.281+12_281+13delinsAG
NM_000027.4(AGA):c.290T>C (p.Met97Thr)
NM_000027.4(AGA):c.292G>T (p.Asp98Tyr)
NM_000027.4(AGA):c.308G>A (p.Gly103Glu) rs1736932419
NM_000027.4(AGA):c.308_310del (p.Gly103del) rs1553994762
NM_000027.4(AGA):c.311A>T (p.Asp104Val)
NM_000027.4(AGA):c.312T>G (p.Asp104Glu)
NM_000027.4(AGA):c.334A>G (p.Ile112Val) rs925345330
NM_000027.4(AGA):c.338G>A (p.Gly113Asp)
NM_000027.4(AGA):c.340G>A (p.Val114Met)
NM_000027.4(AGA):c.34G>C (p.Val12Leu) rs74626221
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.394+6T>C
NM_000027.4(AGA):c.428A>G (p.Asn143Ser)
NM_000027.4(AGA):c.449C>T (p.Ala150Val) rs1202403932
NM_000027.4(AGA):c.454C>A (p.Gln152Lys)
NM_000027.4(AGA):c.46C>T (p.Leu16Phe)
NM_000027.4(AGA):c.481C>T (p.Arg161Trp)
NM_000027.4(AGA):c.507+5G>C rs1472514068
NM_000027.4(AGA):c.530A>G (p.Lys177Arg) rs1189458949
NM_000027.4(AGA):c.535T>C (p.Cys179Arg) rs1187962299
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)
NM_000027.4(AGA):c.557G>C (p.Gly186Ala)
NM_000027.4(AGA):c.559A>G (p.Ile187Val) rs2111015706
NM_000027.4(AGA):c.571G>C (p.Asp191His) rs766110192
NM_000027.4(AGA):c.585T>C (p.His195=) rs1736860088
NM_000027.4(AGA):c.611A>T (p.His204Leu)
NM_000027.4(AGA):c.620T>C (p.Ile207Thr)
NM_000027.4(AGA):c.623-3T>C
NM_000027.4(AGA):c.693A>G (p.Ile231Met) rs1579042146
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.699-7C>T rs886059260
NM_000027.4(AGA):c.700C>T (p.Arg234Cys)
NM_000027.4(AGA):c.701G>A (p.Arg234His)
NM_000027.4(AGA):c.705A>C (p.Val235=)
NM_000027.4(AGA):c.719T>C (p.Ile240Thr) rs1288215227
NM_000027.4(AGA):c.722C>A (p.Pro241His)
NM_000027.4(AGA):c.745G>A (p.Asp249Asn)
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000027.4(AGA):c.757G>A (p.Ala253Thr) rs1736735409
NM_000027.4(AGA):c.763G>A (p.Ala255Thr)
NM_000027.4(AGA):c.76C>T (p.Pro26Ser)
NM_000027.4(AGA):c.776A>T (p.Asn259Ile)
NM_000027.4(AGA):c.791T>C (p.Met264Thr) rs1404090170
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000027.4(AGA):c.807-3C>T
NM_000027.4(AGA):c.809A>G (p.Tyr270Cys)
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del) rs764622951
NM_000027.4(AGA):c.844C>G (p.Pro282Ala) rs2111006963
NM_000027.4(AGA):c.854C>G (p.Ala285Gly)
NM_000027.4(AGA):c.865G>A (p.Val289Met)
NM_000027.4(AGA):c.874A>G (p.Arg292Gly)
NM_000027.4(AGA):c.900C>A (p.Phe300Leu) rs2111006859
NM_000027.4(AGA):c.902T>G (p.Phe301Cys) rs35916166
NM_000027.4(AGA):c.914T>A (p.Ile305Lys)
NM_000027.4(AGA):c.914T>G (p.Ile305Arg)
NM_000027.4(AGA):c.915A>G (p.Ile305Met)
NM_000027.4(AGA):c.923A>G (p.Asn308Ser)
NM_000027.4(AGA):c.935G>A (p.Ser312Asn)
NM_000027.4(AGA):c.938dup (p.Tyr313Ter)
NM_000027.4(AGA):c.939C>T (p.Tyr313=)
NM_000027.4(AGA):c.95A>C (p.Asn32Thr) rs886059262
NM_000027.4(AGA):c.978T>G (p.Phe326Leu) rs373878347

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