ClinVar Miner

List of variants reported as likely pathogenic for lipoic acid synthetase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):

Lipoic acid synthetase deficiency

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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
NM_006859.4(LIAS):c.737+1G>A	rs546751789	0.00003
NM_006859.4(LIAS):c.954+1G>A	rs965952835	0.00001
NM_006859.4(LIAS):c.218+1G>A
NM_006859.4(LIAS):c.884-1G>A	rs201155530

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