ClinVar Miner

List of variants in gene combination GLB1, TMPPE reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000404.4(GLB1):c.-17C>T
NM_000404.4(GLB1):c.-25C>G rs368944274
NM_000404.4(GLB1):c.-35T>G rs886058344
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr) rs772539129

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