List of variants reported as uncertain significance for Vici syndrome by Revvity Omics, Revvity

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val)	rs144334723	0.00245
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala)	rs549760994	0.00028
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=)	rs376297358	0.00019
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg)	rs200456950	0.00006
NM_020964.3(EPG5):c.5123G>A (p.Gly1708Asp)	rs750664406	0.00003
NM_020964.3(EPG5):c.1104C>T (p.Phe368=)	rs562098384	0.00002
NM_020964.3(EPG5):c.4771G>A (p.Gly1591Ser)	rs370120497	0.00002
NM_020964.3(EPG5):c.4498T>A (p.Leu1500Met)	rs201986809	0.00001
NM_020964.3(EPG5):c.1694C>G (p.Thr565Ser)
NM_020964.3(EPG5):c.2479A>G (p.Ile827Val)
NM_020964.3(EPG5):c.3332T>C (p.Leu1111Pro)	rs2050036468
NM_020964.3(EPG5):c.4816G>A (p.Gly1606Ser)
NM_020964.3(EPG5):c.5404_5405delinsTT (p.Glu1802Leu)
NM_020964.3(EPG5):c.5623G>T (p.Ala1875Ser)
NM_020964.3(EPG5):c.5840_5845del (p.Ala1947_Gln1948del)
NM_020964.3(EPG5):c.5943-9_5943-5del	rs773330060

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