ClinVar Miner

List of variants reported as benign 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: 12
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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.*125G>A rs143689218
NM_001482.3(GATM):c.*595C>A rs75565512
NM_001482.3(GATM):c.*734_*735insCA rs35410548

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