ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000126.4(ETFA):c.*216A>T rs1803550 0.97654
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_000016.6(ACADM):c.*878T>C rs1146587 0.65645
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_000017.4(ACADS):c.*527A>G rs9204 0.29435
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_000017.4(ACADS):c.*21G>C rs3916 0.21460
NM_004453.4(ETFDH):c.*135A>C rs17843966 0.21115
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000016.6(ACADM):c.*672T>C rs8763 0.14503
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000016.6(ACADM):c.-34T>C rs59932454 0.05213
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_000016.6(ACADM):c.*773G>A rs61612438 0.05111
NM_000017.4(ACADS):c.*249G>A rs628909 0.04756
NM_000016.6(ACADM):c.*39G>A rs17848065 0.04004
NM_000126.4(ETFA):c.*268A>G rs80292319 0.03836
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000017.4(ACADS):c.*310C>G rs116733542 0.02741
NM_000017.4(ACADS):c.*5G>A rs2229533 0.02244
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_000017.4(ACADS):c.*387A>G rs11065238 0.01712
NM_000017.4(ACADS):c.*500G>A rs639667 0.01483
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_000017.4(ACADS):c.*115G>A rs2229534 0.01325
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_000126.4(ETFA):c.562+11A>T rs143834701 0.00311
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103

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