ClinVar Miner

List of variants reported as 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: 17
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HGVS dbSNP
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.900C>T (p.Thr300=) rs17097429
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_001985.3(ETFB):c.217-4G>T rs149557388
NM_001985.3(ETFB):c.447C>T (p.Phe149=) rs144640661
NM_001985.3(ETFB):c.618C>T (p.Ile206=) rs533794107
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) rs142475999
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780

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