ClinVar Miner

List of variants reported as pathogenic for Vici syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.1252+1G>A	rs763788808
NM_020964.3(EPG5):c.2413-2A>G	rs2511909575
NM_020964.3(EPG5):c.6724del (p.Met2242fs)	rs769440447

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