List of variants reported as likely pathogenic for Vici syndrome by SIB Swiss Institute of Bioinformatics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg)	rs201757275	0.00002
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter)	rs961245497	0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter)	rs866435487	0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter)	rs780889226	0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)	rs863225064	0.00001
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter)	rs1568133760
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter)	rs1568133724
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala)	rs1568118775
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter)	rs1568112543
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter)	rs1568112516
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter)	rs1568107449

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