ClinVar Miner

List of variants in gene RPIA studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_144563.3(RPIA):c.*134A>C
NM_144563.3(RPIA):c.*15G>A rs375899017
NM_144563.3(RPIA):c.*241A>G
NM_144563.3(RPIA):c.*256C>T rs574766296
NM_144563.3(RPIA):c.*281A>G
NM_144563.3(RPIA):c.*291del rs113052379
NM_144563.3(RPIA):c.*29T>G
NM_144563.3(RPIA):c.*531T>G rs6974
NM_144563.3(RPIA):c.*558G>A
NM_144563.3(RPIA):c.*591G>T
NM_144563.3(RPIA):c.*599_*601GTT[1] rs371885783
NM_144563.3(RPIA):c.*635A>G
NM_144563.3(RPIA):c.*712T>C rs886056425
NM_144563.3(RPIA):c.*728T>C
NM_144563.3(RPIA):c.*783A>G
NM_144563.3(RPIA):c.*807C>G rs886056426
NM_144563.3(RPIA):c.-17C>A
NM_144563.3(RPIA):c.177C>T (p.Ser59=)
NM_144563.3(RPIA):c.218C>G (p.Ser73Cys) rs372920523
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)
NM_144563.3(RPIA):c.347-1G>A
NM_144563.3(RPIA):c.404C>T (p.Ala135Val) rs121918591
NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)
NM_144563.3(RPIA):c.493G>A (p.Val165Ile) rs886056422
NM_144563.3(RPIA):c.527+11T>C rs777127840
NM_144563.3(RPIA):c.55C>A (p.Pro19Thr) rs756750653
NM_144563.3(RPIA):c.57C>T (p.Pro19=)
NM_144563.3(RPIA):c.596+3A>G
NM_144563.3(RPIA):c.596+5A>C rs200342264
NM_144563.3(RPIA):c.5A>G (p.Gln2Arg)
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.706G>A (p.Val236Met) rs752477415
NM_144563.3(RPIA):c.738+18del rs750253754
NM_144563.3(RPIA):c.762del (p.Asn255fs) rs730880316
NM_144563.3(RPIA):c.789C>T (p.Asp263=)
NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)
NM_144563.3(RPIA):c.858A>G (p.Leu286=) rs142341148

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