"Mendelics"[submitter] AND "SLC4A4"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685128	NM_001098484.3(SLC4A4):c.149G>C (p.Gly50Ala)	SLC4A4 (G50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 802075	NM_001098484.3(SLC4A4):c.1904-74_1904-73del	SLC4A4	Deletion (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign
Select item 802076	NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT	SLC4A4	Insertion (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign

Format

Sort by

Choose Destination

ClinVar