ClinVar Miner

List of variants reported as likely benign for acyl-CoA dehydrogenase deficiency by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_000016.5(ACADM):c.210T>G (p.Thr70=) rs778891510
NM_000016.5(ACADM):c.287-10G>C rs368875210
NM_000016.5(ACADM):c.582C>T (p.Asn194=) rs778535261
NM_000016.5(ACADM):c.600-6T>C rs771343450
NM_000016.5(ACADM):c.645T>A (p.Ala215=) rs147395095
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000016.6(ACADM):c.*5dup (p.Ter422=)
NM_000016.6(ACADM):c.118+10C>T
NM_000016.6(ACADM):c.1239T>A (p.Arg413=)
NM_000016.6(ACADM):c.126C>T (p.Thr42=)
NM_000016.6(ACADM):c.195A>C (p.Ala65=)
NM_000016.6(ACADM):c.21A>G (p.Arg7=)
NM_000016.6(ACADM):c.229C>T (p.Leu77=)
NM_000016.6(ACADM):c.33C>T (p.Val11=)
NM_000016.6(ACADM):c.426G>A (p.Lys142=)
NM_000016.6(ACADM):c.474T>C (p.Tyr158=)
NM_000016.6(ACADM):c.579C>T (p.Thr193=)
NM_000016.6(ACADM):c.945+9A>G
NM_000017.4(ACADS):c.1050G>T (p.Leu350=)
NM_000017.4(ACADS):c.624+8C>T rs371550264
NM_000126.4(ETFA):c.186+7A>G rs184587113
NM_000126.4(ETFA):c.30C>T (p.Leu10=) rs1042921735
NM_000126.4(ETFA):c.342C>T (p.Ala114=)
NM_000126.4(ETFA):c.40-10C>T
NM_000126.4(ETFA):c.442A>G (p.Ile148Val) rs199673198
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239
NM_000126.4(ETFA):c.702A>G (p.Leu234=)
NM_000126.4(ETFA):c.720A>G (p.Gln240=)
NM_000126.4(ETFA):c.733+10T>C
NM_000126.4(ETFA):c.816+8T>A
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145
NM_000126.4(ETFA):c.837A>G (p.Gly279=)
NM_001985.3(ETFB):c.253C>A (p.Arg85=)
NM_001985.3(ETFB):c.292C>T (p.Arg98Cys) rs147353781
NM_001985.3(ETFB):c.452C>T (p.Ser151Phe)
NM_001985.3(ETFB):c.521G>A (p.Arg174His) rs141917423
NM_001985.3(ETFB):c.565G>A (p.Glu189Lys) rs376065198
NM_001985.3(ETFB):c.577G>A (p.Ala193Thr) rs200186078
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln)
NM_004453.4(ETFDH):c.1080A>G (p.Ala360=) rs150020458
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1286-8A>T
NM_004453.4(ETFDH):c.1449G>T (p.Pro483=)
NM_004453.4(ETFDH):c.1555T>C (p.Leu519=)
NM_004453.4(ETFDH):c.1560A>C (p.Ser520=)
NM_004453.4(ETFDH):c.1623T>C (p.Asp541=)
NM_004453.4(ETFDH):c.175+3A>G rs781151266
NM_004453.4(ETFDH):c.1764T>C (p.His588=)
NM_004453.4(ETFDH):c.36A>G (p.Ala12=)
NM_004453.4(ETFDH):c.399G>A (p.Glu133=)
NM_004453.4(ETFDH):c.441T>C (p.Phe147=) rs138149265
NM_004453.4(ETFDH):c.459A>G (p.Lys153=)
NM_004453.4(ETFDH):c.474G>A (p.Val158=)
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158
NM_004453.4(ETFDH):c.627T>C (p.Gly209=) rs148708761
NM_004453.4(ETFDH):c.642T>C (p.Ile214=) rs201049444
NM_004453.4(ETFDH):c.651C>T (p.Asn217=)
NM_004453.4(ETFDH):c.832-10T>G rs200911913
NM_004453.4(ETFDH):c.882T>C (p.Thr294=)
NM_004453.4(ETFDH):c.972+7T>A

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