List of variants reported as uncertain significance for CHIME syndrome by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr)	rs114670807	0.00083
NM_004278.4(PIGL):c.446G>C (p.Gly149Ala)	rs140211194	0.00017
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn)	rs148238492	0.00016
NM_004278.4(PIGL):c.354A>G (p.Pro118=)	rs149094276	0.00010
NM_004278.4(PIGL):c.542C>T (p.Thr181Met)	rs748231024	0.00010
NM_004278.4(PIGL):c.336-2A>G	rs369230457	0.00007
NM_004278.4(PIGL):c.*184A>C	rs886052643	0.00006
NM_004278.4(PIGL):c.*324A>G	rs886052645	0.00004
NM_004278.4(PIGL):c.420C>T (p.Ile140=)	rs374713933	0.00002
NM_004278.4(PIGL):c.724C>T (p.Arg242Trp)	rs377632512	0.00002
NM_004278.4(PIGL):c.*318C>A	rs146448001	0.00001
NM_004278.4(PIGL):c.130C>T (p.Leu44=)	rs776742163	0.00001
NM_004278.4(PIGL):c.*185A>C	rs886052644
NM_004278.4(PIGL):c.258_259del (p.Glu86fs)	rs763616470
NM_004278.4(PIGL):c.398A>G (p.Gln133Arg)	rs749202572
NM_004278.4(PIGL):c.535G>T (p.Val179Leu)	rs116591352

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