List of variants in gene GATM reported as pathogenic for primary Fanconi syndrome

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.505C>T (p.Arg169Ter)	rs397514708	0.00001
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala)	rs1889422994
NM_001482.3(GATM):c.1007C>T (p.Thr336Ile)	rs1481334244
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)	rs1889422661
NM_001482.3(GATM):c.958C>T (p.Pro320Ser)	rs1889443535

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