ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Molecular Diagnostics Laboratory,Seoul National University Hospital

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) rs1601747985
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) rs1601776276
NM_000294.3(PHKG2):c.661G>A (p.Val221Met) rs1596687577

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