ClinVar Miner

List of variants studied for Lipoyl transferase 1 deficiency by Elsea Laboratory, Baylor College of Medicine

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Total variants: 2
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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.212C>T (p.Ser71Phe) rs767568897 0.00001

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