ClinVar Miner

List of variants reported as likely benign for Pyruvate dehydrogenase lipoic acid synthetase deficiency by Invitae

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Total variants: 11
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HGVS dbSNP
NM_006859.4(LIAS):c.114C>A (p.Leu38=) rs750439302
NM_006859.4(LIAS):c.129A>G (p.Pro43=) rs377315137
NM_006859.4(LIAS):c.168G>A (p.Arg56=) rs768182597
NM_006859.4(LIAS):c.297T>C (p.Asn99=) rs144299903
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser) rs147516123
NM_006859.4(LIAS):c.393+7C>A rs372423537
NM_006859.4(LIAS):c.60T>C (p.Tyr20=) rs201996792
NM_006859.4(LIAS):c.737+9G>A rs750744754
NM_006859.4(LIAS):c.7C>T (p.Leu3=) rs1553933562
NM_006859.4(LIAS):c.807G>A (p.Gln269=) rs140846573
NM_006859.4(LIAS):c.81G>A (p.Pro27=) rs760501971

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