ClinVar Miner

List of variants studied for inherited Fanconi renotubular syndrome by 3billion, Medical Genetics

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_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser)	rs34044544	0.00016
NM_003052.5(SLC34A1):c.1175-13G>A	rs548223568	0.00002
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)	rs587777732

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