ClinVar Miner

List of variants in gene MRPL39 reported as likely pathogenic for Leigh syndrome

Included ClinVar conditions (11):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
NM_017446.4(MRPL39):c.589-924G>A	rs1209423257
NM_017446.4(MRPL39):c.921+5G>A

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