ClinVar Miner

List of variants studied for Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_000183.2(HADHB):c.-214C>T rs72809668 0.17558
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.17163
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00505
NM_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00446
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00383
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00372
NM_000182.5(HADHA):c.-25C>G rs184300489 0.00274
NM_000182.5(HADHA):c.-1G>T rs72809666 0.00211
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_000183.2(HADHB):c.-185G>C rs367712851 0.00137
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018 0.00054
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000182.5(HADHA):c.79C>T (p.Arg27Cys) rs143832445 0.00029
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00028
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00020
NM_000182.5(HADHA):c.1690-14C>T rs142401180 0.00016
NM_000182.5(HADHA):c.325G>A (p.Ala109Thr) rs368388214 0.00016
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00009
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00008
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00007
NM_000182.5(HADHA):c.858G>A (p.Val286=) rs373864418 0.00007
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00005
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000182.5(HADHA):c.585T>A (p.Pro195=) rs202034466 0.00004
NM_000182.5(HADHA):c.41C>T (p.Ser14Phe) rs765213828 0.00003
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00002
NM_000182.5(HADHA):c.*494G>T rs886055856 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.560G>C (p.Arg187Thr) rs146667859 0.00002
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.189A>G (p.Thr63=) rs748187062 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.27C>T (p.Ile9=) rs1453533016 0.00001
NM_000182.5(HADHA):c.869T>C (p.Val290Ala) rs759968341 0.00001
NM_000182.4(HADHA):c.-37T>C rs528818728
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.16G>C (p.Ala6Pro) rs150565988
NM_000182.5(HADHA):c.454-13C>T rs367636661
NM_000182.5(HADHA):c.676+6T>C rs886055863
NM_000182.5(HADHA):c.932G>C (p.Gly311Ala) rs886055862

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