ClinVar Miner

List of variants in gene LIAS, LOC112939935 studied for Pyruvate dehydrogenase lipoic acid synthetase deficiency

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Total variants: 10
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NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)
NM_006859.4(LIAS):c.20A>T (p.Asp7Val)
NM_006859.4(LIAS):c.23C>T (p.Ala8Val) rs1467308371
NM_006859.4(LIAS):c.29G>A (p.Arg10His) rs1370681479
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser) rs147516123
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln) rs1436660040
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg) rs1320749254
NM_006859.4(LIAS):c.7C>T (p.Leu3=) rs1553933562

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