ClinVar Miner

List of variants in gene GATM reported as benign for AGAT deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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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_001482.3(GATM):c.*600A>G rs1049503 0.31074
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.669T>C (p.Tyr223=) rs151231277 0.00163
NM_001482.3(GATM):c.*699A>C rs750817737 0.00089
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.1244G>A (p.Arg415Gln) rs374592247 0.00004
NM_001482.3(GATM):c.1239G>A (p.Arg413=) rs550159982 0.00003
NM_001482.3(GATM):c.*125G>A rs143689218
NM_001482.3(GATM):c.*595C>A rs75565512
NM_001482.3(GATM):c.*734_*735insCA rs35410548
NM_001482.3(GATM):c.1159+19A>T rs187979088
NM_001482.3(GATM):c.288+184_288+195del rs6145546
NM_001482.3(GATM):c.485-11dup rs758611156
NM_001482.3(GATM):c.979-11del rs202176047
NM_001482.3(GATM):c.979-12_979-11del rs202176047
NM_001482.3(GATM):c.979-18dup rs202176047
NM_001482.3(GATM):c.979-19del

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