ClinVar Miner

List of variants reported as benign for formiminoglutamic aciduria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):

Glutamate formiminotransferase deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.2724A>G (p.Thr908=)	rs9977394	0.13855
NM_206965.2(FTCD):c.1470C>T (p.Gly490=)	rs10432965	0.09606
NM_001849.4(COL6A2):c.*158C>T	rs11554666	0.06989

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