List of variants in gene ACOX2 reported as uncertain significance for Congenital bile acid synthesis defect 6

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003500.4(ACOX2):c.149G>A (p.Arg50His)	rs763287775	0.00001
NM_003500.4(ACOX2):c.1720C>T (p.Arg574Cys)
NM_003500.4(ACOX2):c.1983+2T>C
NM_003500.4(ACOX2):c.380G>A (p.Arg127Lys)	rs1453813439
NM_003500.4(ACOX2):c.749C>T (p.Thr250Ile)

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