ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 19 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp) rs387907087 0.00001
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg) rs749110767 0.00001
NM_017547.4(FOXRED1):c.1057G>T (p.Glu353Ter) rs780131344
NM_017547.4(FOXRED1):c.733+1G>A

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