"OMIM"[submitter] AND "SLC4A2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500827	NM_003040.4(SLC4A2):c.556G>A (p.Ala186Thr)	SLC4A2 (A186T +2 more)	Single nucleotide variant (missense variant)	Osteopetrosis, autosomal recessive 9	GPathogenic
Select item 2500828	NM_003040.4(SLC4A2):c.1658T>C (p.Val553Ala)	SLC4A2 (V553A +2 more)	Single nucleotide variant (missense variant)	Osteopetrosis, autosomal recessive 9	GPathogenic