List of variants in gene ACOX2 reported as pathogenic for congenital bile acid synthesis defect

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp)	rs150832314	0.00022
NM_003500.4(ACOX2):c.323+2T>C	rs751041263	0.00001
NM_003500.4(ACOX2):c.207T>A (p.Tyr69Ter)	rs1057519329
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs)	rs34391522

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