ClinVar Miner

List of variants in gene EPG5 reported as not provided 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.6845T>C (p.Ile2282Thr)	rs201213000	0.00019
NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg)	rs777351158	0.00001

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