ClinVar Miner

List of variants reported as benign for Isovaleryl-CoA dehydrogenase deficiency by Natera, Inc.

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.550+57A>G rs4924466 0.96250
NM_002225.5(IVD):c.234+14T>C rs2289331 0.62561
NM_002225.5(IVD):c.1065+41A>G rs11070270 0.60848
NM_002225.5(IVD):c.688-31T>C rs2289329 0.35913
NM_002225.5(IVD):c.*261G>A rs2075624 0.23369
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312 0.11757
NM_002225.5(IVD):c.*195C>T rs77680513 0.02693
NM_002225.5(IVD):c.1066-5C>T rs115077254 0.02192
NM_002225.5(IVD):c.235-18G>A rs78272986 0.01081
NM_002225.5(IVD):c.-48G>A rs114259808 0.01080
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229 0.00032
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565 0.00026

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