ClinVar Miner

List of variants reported as likely pathogenic for optic atrophy 3 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000019.9:g.(?_46056772)_(46057189_?)del
NM_025136.4(OPA3):c.142+5G>C	rs1250409781
NM_025136.4(OPA3):c.152G>A (p.Trp51Ter)
NM_025136.4(OPA3):c.1A>G (p.Met1Val)	rs1230629432

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