ClinVar Miner

List of variants reported as pathogenic for 3-hydroxyacyl-CoA dehydrogenase deficiency by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NC_000002.11:g.(?_26414109)_(26462021_?)del
NC_000002.12:g.(?_26236845)_(26239153_?)del
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769
NM_000182.5(HADHA):c.1644del (p.Arg549fs) rs1267615713
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771
NM_000182.5(HADHA):c.1690-17_1690-2del
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.612dup (p.Arg205Ter) rs1574623071
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs) rs1456890163
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000183.3(HADHB):c.685C>T (p.Arg229Ter) rs759136382

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