ClinVar Miner

List of variants studied for Lipoic acid synthetase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter) rs764858363 0.00001
NM_006859.4(LIAS):c.218+1G>A
NM_006859.4(LIAS):c.440dup (p.Thr148fs) rs1744706299

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