ClinVar Miner

List of variants studied for acidosis disorder by Mendelics

Included ClinVar conditions (4):

Autosomal recessive proximal renal tubular acidosis
Metabolic acidosis; Renal tubular acidosis; Rickets
Renal tubular acidosis
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT	rs773069537	0.12949
NM_001098484.3(SLC4A4):c.1904-74_1904-73del	rs747897537

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