ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.1684+168T>C rs141960153 0.00719
NM_032861.4(SERAC1):c.1684+209T>C rs148162521 0.00718
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105 0.00411
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262 0.00410
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_032861.4(SERAC1):c.1309-19T>G rs372001660 0.00002
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512

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