ClinVar Miner

List of variants studied for acyl-CoA dehydrogenase deficiency by Mendelics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) rs770273135 0.00001
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) rs199979286 0.00001
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.387+1del rs786204424
NM_000016.6(ACADM):c.709G>T (p.Glu237Ter) rs1570891615
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) rs2150312299
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser) rs1580423432
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.684+2T>G rs1580406119

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