ClinVar Miner

List of variants reported as benign for acyl-CoA dehydrogenase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000016.5(ACADM):c.*39G>A rs17848065
NM_000016.5(ACADM):c.*672T>C rs8763
NM_000016.5(ACADM):c.*773G>A rs61612438
NM_000016.5(ACADM):c.*878T>C rs1146587
NM_000016.5(ACADM):c.-34T>C rs59932454
NM_000016.5(ACADM):c.1161A>G (p.Val387=) rs1061337
NM_000016.5(ACADM):c.216+10T>C rs2275378
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.900C>T (p.Thr300=) rs17097429
NM_000017.4(ACADS):c.*115G>A rs2229534
NM_000017.4(ACADS):c.*21G>C rs3916
NM_000017.4(ACADS):c.*249G>A rs628909
NM_000017.4(ACADS):c.*310C>G rs116733542
NM_000017.4(ACADS):c.*387A>G rs11065238
NM_000017.4(ACADS):c.*500G>A rs639667
NM_000017.4(ACADS):c.*527A>G rs9204
NM_000017.4(ACADS):c.*5G>A rs2229533
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640
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_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915
NM_000126.4(ETFA):c.*216A>T rs1803550
NM_000126.4(ETFA):c.*268A>G rs80292319
NM_000126.4(ETFA):c.39+12C>G rs62027051
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591
NM_000126.4(ETFA):c.562+11A>T rs143834701
NM_004453.4(ETFDH):c.*135A>C rs17843966
NM_004453.4(ETFDH):c.1468+15A>C rs146561214
NM_004453.4(ETFDH):c.1690+15C>T rs11931339
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.92C>T (p.Thr31Ile) rs11559290

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