ClinVar Miner

List of variants reported as likely benign for Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency by Natera, Inc.

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_000182.5(HADHA):c.2146+16T>C rs145930159 0.00408
NM_000191.3(HMGCL):c.393A>G (p.Ser131=) rs56218308 0.00290
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000182.5(HADHA):c.864A>G (p.Glu288=) rs372425837 0.00020
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000182.5(HADHA):c.1935G>A (p.Arg645=) rs762246988 0.00007
NM_000182.5(HADHA):c.777G>A (p.Lys259=) rs142071869 0.00003
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1389A>G (p.Glu463=) rs772078762 0.00001
NM_000182.5(HADHA):c.1854G>C (p.Leu618=) rs201393639 0.00001
NM_000182.5(HADHA):c.201G>A (p.Glu67=) rs1574626650 0.00001
NM_000182.5(HADHA):c.751C>T (p.Leu251=) rs778945181 0.00001
NM_000182.5(HADHA):c.1971G>A (p.Ala657=) rs570854524
NM_000182.5(HADHA):c.2220T>C (p.Tyr740=) rs142120825

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