ClinVar Miner

List of variants studied for AGAT deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001482.3(GATM):c.*940C>T rs1049518 0.55910
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_001482.3(GATM):c.*715T>C rs1049508 0.46090
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001482.2(GATM):c.-200C>T rs7164139 0.31090
NM_001482.3(GATM):c.*600A>G rs1049503 0.31074
NM_001482.3(GATM):c.-30T>G rs8024550 0.11642
NM_001482.3(GATM):c.*913G>A rs17618637 0.08643
NM_001482.3(GATM):c.*847G>A rs1145087 0.00446
NM_001482.3(GATM):c.69+13C>T rs573273215 0.00101
NM_001482.3(GATM):c.*699A>C rs750817737 0.00099
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_001482.3(GATM):c.*27C>G rs200143728 0.00058
NM_001482.3(GATM):c.*55C>A rs771806537 0.00054
NM_001482.2(GATM):c.-274C>T rs745765661 0.00035
NM_001482.3(GATM):c.*799T>C rs903173589 0.00011
NM_001482.3(GATM):c.1041C>T (p.Asp347=) rs139599307 0.00007
NM_001482.3(GATM):c.1030A>G (p.Ile344Val) rs747608698 0.00004
NM_001482.3(GATM):c.1159+14A>G rs368974196 0.00003
NM_001482.3(GATM):c.494G>A (p.Ser165Asn) rs780398292 0.00002
NM_001482.3(GATM):c.644A>G (p.Lys215Arg) rs759012962 0.00002
NM_001482.3(GATM):c.*713T>A rs1889360907 0.00001
NM_001482.2(GATM):c.-171T>C rs886051204
NM_001482.3(GATM):c.*104A>G rs886051201
NM_001482.3(GATM):c.*125G>A rs143689218
NM_001482.3(GATM):c.*272C>T rs1889369976
NM_001482.3(GATM):c.*28C>T rs570994409
NM_001482.3(GATM):c.*555A>G rs1889364313
NM_001482.3(GATM):c.*595C>A rs75565512
NM_001482.3(GATM):c.*734_*735insCA rs35410548
NM_001482.3(GATM):c.*759C>T rs933437799
NM_001482.3(GATM):c.*792C>A rs564624011
NM_001482.3(GATM):c.-72C>T rs886051203
NM_001482.3(GATM):c.1088T>C (p.Leu363Ser) rs753968876
NM_001482.3(GATM):c.1159G>C (p.Gly387Arg) rs886051202
NM_001482.3(GATM):c.181C>G (p.Pro61Ala) rs765462268
NM_001482.3(GATM):c.222C>T (p.Pro74=) rs774485349

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.