ClinVar Miner

List of variants studied for Deficiency of ribose-5-phosphate isomerase

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_144563.3(RPIA):c.*531T>G rs6974 0.22151
NM_144563.3(RPIA):c.858A>G (p.Leu286=) rs142341148 0.00870
NM_144563.3(RPIA):c.*558G>A rs140371867 0.00353
NM_144563.3(RPIA):c.*241A>G rs151226092 0.00250
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.404C>T (p.Ala135Val) rs121918591 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.596+3A>G rs373335890 0.00001
NM_144563.3(RPIA):c.5A>G (p.Gln2Arg) rs559380161 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.*599GTT[1] rs371885783
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.253G>A (p.Ala85Thr) rs1399404493
NM_144563.3(RPIA):c.347-1G>A rs1422698928
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter) rs760452079
NM_144563.3(RPIA):c.493G>A (p.Val165Ile) rs886056422
NM_144563.3(RPIA):c.627G>C (p.Trp209Cys) rs1558699183
NM_144563.3(RPIA):c.633G>A (p.Lys211=) rs72930711
NM_144563.3(RPIA):c.679C>T (p.Arg227Ter)
NM_144563.3(RPIA):c.738+18del rs750253754
NM_144563.3(RPIA):c.762del (p.Asn255fs) rs730880316
NM_144563.3(RPIA):c.770T>C (p.Ile257Thr) rs2104137690

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