List of variants in gene FA2H reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
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: 4

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HGVS	dbSNP	gnomAD frequency
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)	rs878855081	0.00001
NM_024306.5(FA2H):c.782A>G (p.His261Arg)	rs761645282	0.00001
NM_024306.5(FA2H):c.806G>A (p.Arg269His)	rs1429546236	0.00001
NM_024306.5(FA2H):c.340_363+8del	rs1597556143

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