ClinVar Miner

List of variants studied for D-glyceric aciduria by Universitäts-Kinderspital Zürich

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_145262.4(GLYCTK):c.1448del (p.Phe483fs) rs121909447
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448
NM_145262.4(GLYCTK):c.1558del (p.Leu520fs) rs121909449

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