ClinVar Miner

List of variants in gene combination GLB1, LOC129936434, TMPPE reported as pathogenic by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.75+2dup	rs587776525	0.00021
NM_000404.4(GLB1):c.75+4dup	rs2125591475

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