ClinVar Miner

List of variants in gene GATM, LOC130056991 studied for primary Fanconi syndrome

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.-1G>A	rs778453861	0.00010
NM_001482.3(GATM):c.48G>T (p.Ala16=)	rs587780951	0.00001
NM_001482.3(GATM):c.9G>A (p.Arg3=)	rs1471775361	0.00001

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