ClinVar Miner

List of variants reported as uncertain significance for lipoic acid synthetase deficiency by Baylor Genetics

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_006859.4(LIAS):c.877A>G (p.Met293Val)	rs943564525	0.00003
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp)	rs1191295540
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)	rs773069554

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