ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610
NM_000152.5(GAA):c.228_229insAGC (p.Ala77_Val78insSer)
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000175.5(GPI):c.-9A>G
NM_000175.5(GPI):c.1270-9G>A
NM_000175.5(GPI):c.572A>G (p.His191Arg) rs758281551
NM_000289.6(PFKM):c.1063-6C>A
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) rs1187663822
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990
NM_000365.6(TPI1):c.448G>T (p.Val150Phe) rs150585849
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr)
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg) rs1800202
NM_184041.4(ALDOA):c.112+4C>T rs200278984

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