List of variants in gene combination EPG5, LOC126862737 reported as pathogenic for Vici syndrome

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.1254del (p.Ser419fs)	rs2050902019	0.00001
NM_020964.3(EPG5):c.1253-1G>A	rs1470797555
NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter)

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