ClinVar Miner

List of variants reported as benign for AGAT deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_001482.3(GATM):c.1159+19A>T rs187979088
NM_001482.3(GATM):c.485-11dup rs758611156
NM_001482.3(GATM):c.70-16del
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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