List of variants reported as uncertain significance for CHIME syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_004278.4(PIGL):c.424C>A (p.Leu142Met)	rs115958467	0.00486
NM_004278.4(PIGL):c.526+10G>A	rs138410893	0.00121
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr)	rs114670807	0.00083
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)	rs148238492	0.00016
NM_004278.4(PIGL):c.493A>C (p.Arg165=)	rs184077858	0.00014
NM_004278.4(PIGL):c.595T>C (p.Leu199=)	rs114176862	0.00014
NM_004278.4(PIGL):c.354A>G (p.Pro118=)	rs149094276	0.00010
NM_004278.4(PIGL):c.4G>A (p.Glu2Lys)	rs150000731	0.00008
NM_004278.4(PIGL):c.627C>T (p.Phe209=)	rs146164310	0.00008
NM_004278.4(PIGL):c.426+14T>C	rs138467285	0.00003
NM_004278.4(PIGL):c.30G>T (p.Ala10=)	rs147669920	0.00001
NM_004278.4(PIGL):c.480G>A (p.Leu160=)	rs114697377	0.00001
NM_004278.4(PIGL):c.534T>C (p.Ser178=)	rs114145762	0.00001
NM_004278.4(PIGL):c.535G>A (p.Val179Met)	rs116591352	0.00001
NM_004278.4(PIGL):c.540C>T (p.Leu180=)	rs115695383	0.00001
NM_004278.4(PIGL):c.169T>C (p.Phe57Leu)	rs587784324
NM_004278.4(PIGL):c.426+8G>A	rs145914582
NM_004278.4(PIGL):c.652C>G (p.Gln218Glu)	rs139004722

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