ClinVar Miner

List of variants reported as likely pathogenic for Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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Total variants: 47
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HGVS dbSNP
NM_000182.4(HADHA):c.800-1_801delGAA rs1553314023
NM_000182.5(HADHA):c.1052del (p.Lys351fs) rs1057516556
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049
NM_000182.5(HADHA):c.1202del (p.Gln401fs) rs1057517087
NM_000182.5(HADHA):c.1221-1G>C rs1057516233
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter) rs1057516461
NM_000182.5(HADHA):c.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.1342_1343GT[1] (p.Val448_Phe449insTer) rs1057516734
NM_000182.5(HADHA):c.1479+1G>T rs1290945516
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1590del (p.Lys531fs) rs1057516991
NM_000182.5(HADHA):c.1620+2_1620+6del rs764557236
NM_000182.5(HADHA):c.1690-2A>G rs1057516217
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs) rs1553312033
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) rs1057517397
NM_000182.5(HADHA):c.1959dup (p.Ser654Ter) rs1553311804
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.1A>G (p.Met1Val) rs1057517430
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2026del (p.Arg676fs) rs1553311716
NM_000182.5(HADHA):c.2059del (p.Met687fs) rs1553311706
NM_000182.5(HADHA):c.2071G>T (p.Glu691Ter) rs1057517132
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.2146+2T>C rs1057516350
NM_000182.5(HADHA):c.2220T>A (p.Tyr740Ter) rs142120825
NM_000182.5(HADHA):c.2222del (p.Gly741fs) rs1553311647
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.2227_2228del (p.Gln743fs) rs1553311645
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter) rs1057516326
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.315-1G>A rs1458898996
NM_000182.5(HADHA):c.3G>A (p.Met1Ile) rs1237270916
NM_000182.5(HADHA):c.453+1G>A rs1057516417
NM_000182.5(HADHA):c.515del (p.Pro172fs) rs1057517282
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter) rs1300516636
NM_000182.5(HADHA):c.677-1G>A rs1553314070
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.800-1G>T rs1553314024
NM_000182.5(HADHA):c.844_845insA (p.Val282fs) rs774235292
NM_000182.5(HADHA):c.919-2A>G rs200017313

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