List of variants in gene combination GLB1, LOC129936434, TMPPE reported as pathogenic for carbohydrate metabolism disease

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.75+2dup	rs587776525	0.00021
NM_000404.4(GLB1):c.51dup (p.Leu18fs)	rs398123356
NM_000404.4(GLB1):c.65_75+1del	rs1382394474
NM_000404.4(GLB1):c.69_75+1del
NM_000404.4(GLB1):c.75+2T>G	rs2125591484

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