ClinVar Miner

List of variants reported as uncertain significance for Lipoyl transferase 1 deficiency

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_145199.3(LIPT1):c.539T>C (p.Leu180Ser) rs1487643005 0.00002
NM_145199.3(LIPT1):c.131A>G (p.Asn44Ser) rs1468529365 0.00001
NM_145199.3(LIPT1):c.316G>A (p.Val106Ile) rs1368952585
NM_145199.3(LIPT1):c.578T>C (p.Leu193Pro) rs2468665128

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