ClinVar Miner

List of variants studied for inherited Fanconi renotubular syndrome by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (10):

Arginine:glycine amidinotransferase deficiency; Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Fanconi renotubular syndrome 5
Hypophosphatemic nephrolithiasis/osteoporosis 1; Fanconi renotubular syndrome 2; Hypercalcemia, infantile, 2
Maturity-onset diabetes of the young type 1; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Mitochondrial complex 1 deficiency, nuclear type 17; Fanconi renotubular syndrome 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.911T>C (p.Ile304Thr)	rs1334969328	0.00001
NM_001482.3(GATM):c.139C>G (p.Arg47Gly)
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)

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