List of variants in gene OXCT1 reported as likely pathogenic by Revvity Omics, Revvity

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_000436.4(OXCT1):c.1402C>T (p.Arg468Cys)	rs1327401976	0.00001
NM_000436.4(OXCT1):c.278+1G>A	rs2112471375
NM_000436.4(OXCT1):c.370C>T (p.Arg124Ter)	rs1579884900
NM_000436.4(OXCT1):c.450dup (p.Gly151fs)	rs2112440626

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