ClinVar Miner

List of variants reported as uncertain significance for acyl-CoA dehydrogenase deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.-61C>T rs377679439 0.00033
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys) rs374358376 0.00028
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser) rs748346465 0.00010
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln) rs200290334 0.00007
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile) rs146982178 0.00007
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His) rs757842479 0.00006
NM_000017.4(ACADS):c.1157G>A (p.Arg386His) rs766183395 0.00005
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala) rs146299082 0.00004
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly) rs201888260 0.00003
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000017.4(ACADS):c.481A>G (p.Ser161Gly) rs755856935 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.958G>T (p.Ala320Ser) rs777939247 0.00001
NM_000017.4(ACADS):c.981_983del (p.Thr328del) rs1347248007 0.00001
NM_000126.4(ETFA):c.39G>A (p.Ala13=) rs776956043 0.00001
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr) rs770140708 0.00001
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg) rs989125087 0.00001
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp) rs774810601 0.00001
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala) rs201067972 0.00001
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) rs1553123872
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.203C>T (p.Ala68Val) rs148789330
NM_001985.3(ETFB):c.58-196_58-194del rs768440463
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr) rs1175266968

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