ClinVar Miner

List of variants studied for CHIME syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 19
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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.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004278.4(PIGL):c.595T>C (p.Leu199=) rs114176862 0.00017
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn) rs148238492 0.00014
NM_004278.4(PIGL):c.493A>C (p.Arg165=) rs184077858 0.00014
NM_004278.4(PIGL):c.354A>G (p.Pro118=) rs149094276 0.00010
NM_004278.4(PIGL):c.627C>T (p.Phe209=) rs146164310 0.00008
NM_004278.4(PIGL):c.4G>A (p.Glu2Lys) rs150000731 0.00007
NM_004278.4(PIGL):c.480G>A (p.Leu160=) rs114697377 0.00002
NM_004278.4(PIGL):c.30G>T (p.Ala10=) rs147669920 0.00001
NM_004278.4(PIGL):c.426+14T>C rs138467285 0.00001
NM_004278.4(PIGL):c.426+8G>A rs145914582 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.652C>G (p.Gln218Glu) rs139004722

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