ClinVar Miner

List of variants studied for Lipoyl transferase 1 deficiency by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00045
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) rs137973334 0.00019

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