ClinVar Miner

List of variants in gene RPIA reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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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.*15G>A rs375899017 0.00006
NM_144563.3(RPIA):c.706G>A (p.Val236Met) rs752477415 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.596+3A>G rs373335890 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.493G>A (p.Val165Ile) rs886056422
NM_144563.3(RPIA):c.738+18del rs750253754

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