List of variants in gene FA2H reported as 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.589C>T (p.Arg197Ter)	rs1463651673	0.00001
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)	rs387907039	0.00001
NM_024306.5(FA2H):c.510_511del (p.Tyr170_Ser171delinsTer)	rs587776891
NM_024306.5(FA2H):c.786+1G>A	rs1567633766

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