ClinVar Miner

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

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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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn)	rs117817123	0.00946
NM_020964.3(EPG5):c.1254G>A (p.Ala418=)	rs368735317	0.00014

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