ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000404.4(GLB1):c.-37C>G rs115554377
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776

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