List of variants reported as pathogenic for lipoyl transferase 1 deficiency by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter)	rs137891647	0.00047
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly)	rs137973334	0.00019
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe)	rs767568897	0.00001
NM_145199.3(LIPT1):c.535A>G (p.Thr179Ala)	rs786205156

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