List of variants in gene GATM reported as likely benign 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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.484+19C>T	rs374556262	0.00026
NM_001482.3(GATM):c.801A>C (p.Ala267=)	rs371507418	0.00012
NM_001482.3(GATM):c.979-19G>T	rs575171738	0.00004
NM_001482.3(GATM):c.1257G>A (p.Gln419=)	rs774881489	0.00001
NM_001482.3(GATM):c.138C>T (p.Ser46=)	rs1012951622	0.00001
NM_001482.3(GATM):c.294C>T (p.Asn98=)	rs1271594468	0.00001
NM_001482.3(GATM):c.540C>T (p.Ile180=)	rs758473036	0.00001
NM_001482.3(GATM):c.1159+19A>G	rs187979088
NM_001482.3(GATM):c.576G>A (p.Glu192=)	rs759135975
NM_001482.3(GATM):c.684C>T (p.Pro228=)	rs1251849022
NM_001482.3(GATM):c.814-17C>G	rs368314780
NM_001482.3(GATM):c.930C>T (p.Ile310=)	rs2140641456
NM_001482.3(GATM):c.979-18dup	rs202176047

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.