List of variants in gene combination LIPT1, MITD1 reported as likely pathogenic for lipoyl transferase 1 deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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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	0.00047
NM_145199.3(LIPT1):c.212C>T (p.Ser71Phe)	rs767568897	0.00001
NM_145199.3(LIPT1):c.244C>T (p.Gln82Ter)
NM_145199.3(LIPT1):c.368del (p.Lys123fs)
NM_145199.3(LIPT1):c.806G>A (p.Trp269Ter)	rs863224892

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