ClinVar Miner

List of variants studied for Lipoyl transferase 1 deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_145199.3(LIPT1):c.369del (p.Lys123fs) rs552120721 0.00071
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00045
NM_145199.3(LIPT1):c.244C>T (p.Gln82Ter)

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