SLC4A1 and distal renal tubular acidosis: Another very rare (gnomAD Minor Allele Frequency (MAF) 0.0007) missense c.733G>A, p.(Val245Met) (rs148170067) variant was also identified in the SLC4A1 gene (RefSeq NM_000342) encoding the chloride-bicarbonate anion exchanger 1 (AE1), the pathogenic variants of which cause autosomal dominant or recessive distal tubular acidosis (dRTA) (OMIM # 179800, #611590).