ClinVar Miner

List of variants reported as likely pathogenic for distal renal tubular acidosis by Chinese Inherited Urolithiasis Consortium, The Affiliated Yantai Yuhuangding Hospital of Qingdao University

Included ClinVar conditions (10):

Autosomal dominant distal renal tubular acidosis
Autosomal recessive distal renal tubular acidosis
BLOOD GROUP--SWANN SYSTEM; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--FROESE; BLOOD GROUP--WRIGHT ANTIGEN; Southeast Asian ovalocytosis; Hereditary spherocytosis type 4; BLOOD GROUP--DIEGO SYSTEM; Cryohydrocytosis; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia; Malaria, susceptibility to
Distal renal tubular acidosis
Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosis
Hereditary spherocytosis type 4; Autosomal dominant distal renal tubular acidosis; Renal tubular acidosis, distal, 4, with hemolytic anemia
Renal tubular acidosis with progressive nerve deafness
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
Renal tubular acidosis, distal, 4, with hemolytic anemia
Renal tubular acidosis, distal, 4, with hemolytic anemia; Amelogenesis imperfecta hypomaturation type 2A3

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)	rs121912748	0.00002
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	rs121912745
NM_000342.4(SLC4A1):c.2453A>G (p.Tyr818Cys)

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