ClinVar Miner

List of variants studied for distal renal tubular acidosis by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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

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

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His)	rs1443883930	0.00001
NM_000342.4(SLC4A1):c.1087+8C>T
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs)	rs782549406
NM_001692.4(ATP6V1B1):c.183del (p.Gln61fs)	rs1680484812
NM_001692.4(ATP6V1B1):c.343_349del (p.Thr115fs)

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