ClinVar Miner

List of variants reported as uncertain significance for 3-hydroxyacyl-CoA dehydrogenase deficiency by Counsyl

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000182.5(HADHA):c.1220+2_1220+5dup rs1553313192
NM_000182.5(HADHA):c.1493A>G (p.His498Arg) rs752005568
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143
NM_000182.5(HADHA):c.1705_1707AAG[1] (p.Lys570del) rs1553312059
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly) rs267599303
NM_000182.5(HADHA):c.1917_1919dup (p.Gln640_Glu641insHis) rs796051971
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly) rs1553311698
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup) rs1553311646
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter) rs768855989
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs) rs1553311633
NM_000182.5(HADHA):c.2_4TGG[1] (p.Val2del) rs1553316724
NM_000182.5(HADHA):c.403A>G (p.Lys135Glu) rs794727700
NM_000182.5(HADHA):c.574-4dup rs763636903
NM_000182.5(HADHA):c.646_657dup (p.Gly216_Asp219dup) rs1316714458
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877
NM_000182.5(HADHA):c.975G>A (p.Gln325=) rs751970693
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970

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