"Revvity Omics, Revvity"[submitter] AND "AKR1D1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438957	NM_005989.4(AKR1D1):c.66_71del (p.Leu23_Gly24del)	AKR1D1	Deletion (inframe_deletion)	Congenital bile acid synthesis defect 2	GUncertain significance
Select item 1064451	NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)	AKR1D1 (R225Q +1 more)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 2	GLikely pathogenic