ClinVar Miner

List of variants in gene DNM1L reported as likely pathogenic for optic atrophy 5

Included ClinVar conditions (2):

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_012062.5(DNM1L):c.1596+2T>A	rs769684495	0.00001
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)	rs1565548029

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