ClinVar Miner

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

Included ClinVar conditions (6):
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ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.709G>T (p.Glu237Ter) rs1570891615
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
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.461C>T (p.Thr154Met) rs1130426
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.295C>T (p.Arg99Cys) rs371493232
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.684+2T>G rs1580406119
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) rs199979286

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