List of variants in gene ACBD5 studied for inborn disorder of amino acid metabolism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_145698.5(ACBD5):c.407T>C (p.Val136Ala)	rs573943806	0.00006
NM_145698.5(ACBD5):c.1446del (p.Thr483fs)	rs1564578483

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