ClinVar Miner

List of variants in gene LIAS reported as benign for Pyruvate dehydrogenase lipoic acid synthetase deficiency

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Total variants: 6
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NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032
NM_006859.4(LIAS):c.393+10G>A rs372094616
NM_006859.4(LIAS):c.393+8C>A rs201574806
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949
NM_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265

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