ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_006859.4(LIAS):c.212del (p.Gly71fs)
NM_006859.4(LIAS):c.266dup (p.Asn89fs)
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer) rs1553934069
NM_006859.4(LIAS):c.363del (p.Glu122fs) rs1553934199
NM_006859.4(LIAS):c.440dup (p.Thr148fs)
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys) rs869320760
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) rs869312808
NM_006859.4(LIAS):c.64dup (p.Cys22fs) rs960319940
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter)
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667

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