ClinVar Miner

List of variants reported as uncertain significance for Very long chain acyl-CoA dehydrogenase deficiency by ClinGen ACADVL Variant Curation Expert Panel, ClinGen

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00115
NM_000018.4(ACADVL):c.622+12C>A rs374633807 0.00011
NM_000018.4(ACADVL):c.1182+17C>A rs191276923 0.00009
NM_000018.4(ACADVL):c.62+18G>A rs780776419 0.00006
NM_000018.4(ACADVL):c.109C>T (p.Arg37Trp) rs536992268 0.00004
NM_000018.4(ACADVL):c.342+15G>A rs777751102 0.00004
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala) rs372684079 0.00003
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1072A>G (p.Lys358Glu) rs146589640 0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=) rs765356942 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088 0.00001
NM_000018.4(ACADVL):c.201G>A (p.Lys67=) rs753577095 0.00001
NM_000018.4(ACADVL):c.216C>T (p.Ser72=) rs761492981 0.00001
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg) rs746688190 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1183-7A>G rs750441118
NM_000018.4(ACADVL):c.1269+1del rs2071340733
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val) rs2071345754
NM_000018.4(ACADVL):c.1332+2T>A rs1398874051
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1411T>C (p.Phe471Leu) rs748964823
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1801del (p.Met601fs) rs2508370832
NM_000018.4(ACADVL):c.1808del (p.Cys603fs) rs2142990894
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter) rs2071404265
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs) rs2071412513
NM_000018.4(ACADVL):c.1966T>A (p.Ter656Arg) rs2508376848
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser) rs2071416769
NM_000018.4(ACADVL):c.1968A>C (p.Ter656Cys) rs2508376906
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala) rs796051907
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu) rs750653177
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val) rs2508264631
NM_000018.4(ACADVL):c.439C>T (p.Pro147Ser) rs1032857886
NM_000018.4(ACADVL):c.477+17G>A rs375076326
NM_000018.4(ACADVL):c.494A>T (p.Glu165Val) rs1248423287
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser) rs2071231356
NM_000018.4(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.877C>T (p.His293Tyr) rs2508306525
NM_000018.4(ACADVL):c.910G>A (p.Ala304Thr) rs2508315512
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val) rs1473375424

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