ClinVar Miner

List of variants reported as pathogenic for Aspartylglucosaminuria by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904 0.00055
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743 0.00003
NM_000027.4(AGA):c.677G>A (p.Gly226Asp) rs386833431 0.00003
NM_000027.4(AGA):c.503G>A (p.Trp168Ter) rs386833430 0.00002
NM_000027.4(AGA):c.1A>G (p.Met1Val) rs1054938291 0.00001
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989 0.00001
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436 0.00001
NM_000027.4(AGA):c.86del (p.Leu29fs) rs764598121 0.00001
NM_000027.4(AGA):c.940+1G>T rs386833437 0.00001
NC_000004.11:g.(?_178351918)_(178357515_?)del
NC_000004.11:g.(?_178357420)_(178363667_?)del
NC_000004.11:g.(?_178363393)_(178363667_?)del
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.128-2A>G rs2111022003
NM_000027.4(AGA):c.172G>T (p.Glu58Ter)
NM_000027.4(AGA):c.187dup (p.Met63fs) rs2111021738
NM_000027.4(AGA):c.192del (p.Cys64fs) rs1553994830
NM_000027.4(AGA):c.198_201del (p.Arg66fs)
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.210del (p.Asp70fs) rs1736955435
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.268dup (p.Met90fs) rs2111021475
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.329del (p.Asn110fs) rs764357395
NM_000027.4(AGA):c.333del (p.Ile112fs) rs1057517223
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.367_371del (p.Thr123fs) rs1736928101
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.375_376del (p.Leu126fs) rs386833425
NM_000027.4(AGA):c.375_378del (p.Thr125_Leu126insTer)
NM_000027.4(AGA):c.389_390del (p.Glu130fs)
NM_000027.4(AGA):c.3G>C (p.Met1Ile) rs937973897
NM_000027.4(AGA):c.454C>T (p.Gln152Ter) rs991950983
NM_000027.4(AGA):c.509dup (p.Asn170fs) rs2111015936
NM_000027.4(AGA):c.519dup (p.Asp174fs) rs2111015862
NM_000027.4(AGA):c.52C>T (p.Gln18Ter)
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.555_558del (p.Gly186fs) rs1736861131
NM_000027.4(AGA):c.55del (p.Ala19fs)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter) rs370078048
NM_000027.4(AGA):c.665del (p.Thr222fs)
NM_000027.4(AGA):c.698+1del rs2111013273
NM_000027.4(AGA):c.797dup (p.Leu267fs)
NM_000027.4(AGA):c.859C>T (p.Gln287Ter) rs1736687730
NM_000027.4(AGA):c.864del (p.Lys288_Val289insTer)
NM_000027.4(AGA):c.940+1G>A rs386833437
NM_000027.4(AGA):c.9del (p.Lys4fs)

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.