ClinVar Miner

List of variants reported as uncertain significance for Aspartylglucosaminuria by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067 0.00074
NM_000027.4(AGA):c.792G>A (p.Met264Ile) rs369967348 0.00032
NM_000027.4(AGA):c.276G>A (p.Met92Ile) rs150912713 0.00026
NM_000027.4(AGA):c.806+3A>G rs368144874 0.00023
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132 0.00015
NM_000027.4(AGA):c.481C>T (p.Arg161Trp) rs777637637 0.00013
NM_000027.4(AGA):c.428A>G (p.Asn143Ser) rs144349742 0.00007
NM_000027.4(AGA):c.523C>T (p.Pro175Ser) rs367968495 0.00006
NM_000027.4(AGA):c.700C>T (p.Arg234Cys) rs572348048 0.00006
NM_000027.4(AGA):c.794G>A (p.Arg265His) rs375663828 0.00006
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451 0.00004
NM_000027.4(AGA):c.763G>A (p.Ala255Thr) rs770570725 0.00004
NM_000027.4(AGA):c.390G>C (p.Glu130Asp) rs770240412 0.00003
NM_000027.4(AGA):c.854C>T (p.Ala285Val) rs763018918 0.00003
NM_000027.4(AGA):c.1000G>A (p.Glu334Lys) rs763615962 0.00002
NM_000027.4(AGA):c.197G>C (p.Arg66Thr) rs765934592 0.00002
NM_000027.4(AGA):c.280G>C (p.Gly94Arg) rs758907500 0.00002
NM_000027.4(AGA):c.312T>G (p.Asp104Glu) rs1463151836 0.00002
NM_000027.4(AGA):c.574A>G (p.Ile192Val) rs189159117 0.00002
NM_000027.4(AGA):c.598G>A (p.Asp200Asn) rs761243441 0.00002
NM_000027.4(AGA):c.914T>A (p.Ile305Lys) rs373616948 0.00002
NM_000027.4(AGA):c.987G>C (p.Met329Ile) rs774051527 0.00002
NM_000027.4(AGA):c.1030G>C (p.Asp344His) rs776865078 0.00001
NM_000027.4(AGA):c.104C>T (p.Pro35Leu) rs760099526 0.00001
NM_000027.4(AGA):c.128C>T (p.Ala43Val) rs1054743624 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.290T>C (p.Met97Thr) rs1158333127 0.00001
NM_000027.4(AGA):c.340G>A (p.Val114Met) rs760486007 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.515T>C (p.Ile172Thr) rs745924498 0.00001
NM_000027.4(AGA):c.545A>G (p.Tyr182Cys) rs1314658888 0.00001
NM_000027.4(AGA):c.604C>T (p.Arg202Cys) rs764539498 0.00001
NM_000027.4(AGA):c.620T>C (p.Ile207Thr) rs772248515 0.00001
NM_000027.4(AGA):c.623-3T>C rs373612365 0.00001
NM_000027.4(AGA):c.649C>T (p.His217Tyr) rs763070208 0.00001
NM_000027.4(AGA):c.701G>A (p.Arg234His) rs747683614 0.00001
NM_000027.4(AGA):c.76C>T (p.Pro26Ser) rs763679698 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.865G>A (p.Val289Met) rs750208695 0.00001
NM_000027.4(AGA):c.874A>G (p.Arg292Gly) rs764956911 0.00001
NM_000027.4(AGA):c.938dup (p.Tyr313Ter) rs761594218 0.00001
NM_000027.4(AGA):c.939C>T (p.Tyr313=) rs752718514 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_000027.4(AGA):c.1000G>T (p.Glu334Ter) rs763615962
NM_000027.4(AGA):c.1006A>C (p.Asn336His) rs151105390
NM_000027.4(AGA):c.1007del (p.Asn336fs) rs760478720
NM_000027.4(AGA):c.1007dup (p.Asn336fs) rs760478720
NM_000027.4(AGA):c.127+5G>A rs1327701669
NM_000027.4(AGA):c.14C>T (p.Ser5Leu) rs749352651
NM_000027.4(AGA):c.230G>A (p.Gly77Glu) rs2476874292
NM_000027.4(AGA):c.238G>C (p.Asp80His) rs748002607
NM_000027.4(AGA):c.23C>T (p.Pro8Leu)
NM_000027.4(AGA):c.243A>T (p.Glu81Asp) rs1579045359
NM_000027.4(AGA):c.279T>A (p.Asp93Glu) rs764053416
NM_000027.4(AGA):c.281+12_281+13delinsAG rs2476873986
NM_000027.4(AGA):c.292G>T (p.Asp98Tyr) rs1475457077
NM_000027.4(AGA):c.308G>A (p.Gly103Glu) rs1736932419
NM_000027.4(AGA):c.311A>T (p.Asp104Val) rs1156626784
NM_000027.4(AGA):c.338G>A (p.Gly113Asp) rs763926046
NM_000027.4(AGA):c.34G>C (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+6T>C rs1277134286
NM_000027.4(AGA):c.454C>A (p.Gln152Lys) rs991950983
NM_000027.4(AGA):c.46C>T (p.Leu16Phe) rs1304530458
NM_000027.4(AGA):c.516A>G (p.Ile172Met)
NM_000027.4(AGA):c.530A>G (p.Lys177Arg) rs1189458949
NM_000027.4(AGA):c.557G>C (p.Gly186Ala) rs2476862680
NM_000027.4(AGA):c.559A>G (p.Ile187Val) rs2111015706
NM_000027.4(AGA):c.611A>T (p.His204Leu) rs2476862436
NM_000027.4(AGA):c.689A>G (p.Lys230Arg)
NM_000027.4(AGA):c.693A>G (p.Ile231Met) rs1579042146
NM_000027.4(AGA):c.705A>C (p.Val235=) rs150175428
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.776A>T (p.Asn259Ile) rs1306999394
NM_000027.4(AGA):c.791T>C (p.Met264Thr) rs1404090170
NM_000027.4(AGA):c.807-3C>T rs1736690229
NM_000027.4(AGA):c.809A>G (p.Tyr270Cys) rs746186336
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) rs763018918
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>G (p.Ile305Arg) rs373616948
NM_000027.4(AGA):c.915A>G (p.Ile305Met) rs1736685672
NM_000027.4(AGA):c.935G>A (p.Ser312Asn) rs763568779
NM_000027.4(AGA):c.978T>G (p.Phe326Leu) rs373878347

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.