ClinVar Miner

List of variants in gene LONP1 reported as pathogenic for CODAS syndrome

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004793.4(LONP1):c.2026C>T (p.Pro676Ser) rs879255247 0.00002
NM_004793.4(LONP1):c.1892C>A (p.Ser631Tyr) rs879255248 0.00001
NM_004793.4(LONP1):c.2171C>T (p.Ala724Val) rs879255249
NM_004793.4(LONP1):c.2353A>G (p.Arg785Gly) rs730880293

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