ClinVar Miner

List of variants reported as uncertain significance for inborn disorder of pentose phosphate metabolism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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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_006755.1(TALDO1):c.-30C>T rs373293125 0.00103
NM_006755.2(TALDO1):c.36G>A (p.Glu12=) rs150420496 0.00091
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val) rs149640294 0.00051
NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser) rs144787855 0.00048
NM_006755.2(TALDO1):c.461+14C>T rs373077928 0.00034
NM_006755.2(TALDO1):c.*30C>T rs200971004 0.00029
NM_006755.2(TALDO1):c.930C>T (p.Asp310=) rs181385165 0.00022
NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg) rs147961544 0.00018
NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr) rs146282855 0.00016
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_006755.2(TALDO1):c.-6C>T rs762014857 0.00008
NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu) rs144914498 0.00008
NM_144563.3(RPIA):c.706G>A (p.Val236Met) rs752477415 0.00008
NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln) rs186015859 0.00007
NM_006755.2(TALDO1):c.*12G>A rs369845141 0.00006
NM_144563.3(RPIA):c.*15G>A rs375899017 0.00006
NM_144563.3(RPIA):c.*29T>G rs183747347 0.00005
NM_006755.2(TALDO1):c.726C>T (p.Gly242=) rs764708645 0.00004
NM_006755.2(TALDO1):c.*33C>T rs375388046 0.00003
NM_006755.2(TALDO1):c.462-4G>A rs532763032 0.00003
NM_006755.2(TALDO1):c.575G>A (p.Arg192His) rs151052416 0.00003
NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys) rs765872752 0.00003
NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr) rs375231328 0.00003
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_006755.1(TALDO1):c.-37T>C rs886048655 0.00001
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met) rs758756190 0.00001
NM_006755.2(TALDO1):c.402C>T (p.Ile134=) rs886048663 0.00001
NM_006755.2(TALDO1):c.480C>T (p.His160=) rs200500899 0.00001
NM_006755.2(TALDO1):c.48C>T (p.Asp16=) rs886048658 0.00001
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_006755.1(TALDO1):c.-36_-34CGC[7] rs71464113
NM_006755.2(TALDO1):c.356T>C (p.Val119Ala) rs1862905275
NM_006755.2(TALDO1):c.488A>G (p.His163Arg) rs886048664
NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln) rs1863002079
NM_006755.2(TALDO1):c.78C>G (p.Ala26=) rs886048659
NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn) rs866261597
NM_006755.2(TALDO1):c.956C>T (p.Ala319Val) rs1863012392
NM_006755.2(TALDO1):c.982-8_982-5del rs773135701
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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