List of variants reported as uncertain significance for Deficiency of ribose-5-phosphate isomerase by Illumina Laboratory Services, Illumina

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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_144563.3(RPIA):c.*558G>A	rs140371867	0.00353
NM_144563.3(RPIA):c.*256C>T	rs574766296	0.00167
NM_144563.3(RPIA):c.*783A>G	rs184672681	0.00129
NM_144563.3(RPIA):c.789C>T (p.Asp263=)	rs368582524	0.00011
NM_144563.3(RPIA):c.57C>T (p.Pro19=)	rs780586313	0.00009
NM_144563.3(RPIA):c.706G>A (p.Val236Met)	rs752477415	0.00008
NM_144563.3(RPIA):c.*15G>A	rs375899017	0.00006
NM_144563.3(RPIA):c.*29T>G	rs183747347	0.00005
NM_144563.3(RPIA):c.*591G>T	rs925199328	0.00003
NM_144563.3(RPIA):c.*712T>C	rs886056425	0.00003
NM_144563.3(RPIA):c.596+5A>C	rs200342264	0.00003
NM_144563.3(RPIA):c.218C>G (p.Ser73Cys)	rs372920523	0.00002
NM_144563.3(RPIA):c.527+11T>C	rs777127840	0.00002
NM_144563.3(RPIA):c.*728T>C	rs1006392866	0.00001
NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)	rs773038072	0.00001
NM_144563.3(RPIA):c.55C>A (p.Pro19Thr)	rs756750653	0.00001
NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)	rs201938367	0.00001
NM_144563.3(RPIA):c.*134A>C	rs892159755
NM_144563.3(RPIA):c.*281A>G	rs1052569032
NM_144563.3(RPIA):c.*291del	rs113052379
NM_144563.3(RPIA):c.*635A>G	rs150350485
NM_144563.3(RPIA):c.*807C>G	rs886056426
NM_144563.3(RPIA):c.-17C>A	rs776488875
NM_144563.3(RPIA):c.177C>T (p.Ser59=)	rs1676938837
NM_144563.3(RPIA):c.493G>A (p.Val165Ile)	rs886056422
NM_144563.3(RPIA):c.738+18del	rs750253754

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