ClinVar Miner

Variants in gene ACADVL with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 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.1839G>A (p.Arg613=) rs79125791 0.00254
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000018.4(ACADVL):c.1606-22C>T rs370303265 0.00139
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=) rs35501596 0.00061
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467 0.00058
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000018.4(ACADVL):c.1751+18G>A rs528002997 0.00024
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=) rs778531268 0.00014
NM_000018.4(ACADVL):c.*8C>T rs370513576 0.00011
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658 0.00011
NM_000018.4(ACADVL):c.62+9G>A rs369512281 0.00010
NM_000018.4(ACADVL):c.1182+17C>A rs191276923 0.00008
NM_000018.4(ACADVL):c.205-7T>C rs760625298 0.00007
NM_000018.4(ACADVL):c.205-8C>G rs774353448 0.00007
NM_000018.4(ACADVL):c.1077+16G>A rs780420241 0.00005
NM_000018.4(ACADVL):c.139-20C>T rs374535729 0.00004
NM_000018.4(ACADVL):c.342+15G>A rs777751102 0.00004
NM_000018.4(ACADVL):c.343-14T>C rs200368309 0.00003
NM_000018.4(ACADVL):c.477+8C>T rs1437698813 0.00002
NM_000018.4(ACADVL):c.519C>T (p.Gly173=) rs757830946 0.00002
NM_000018.4(ACADVL):c.858G>A (p.Arg286=) rs531514327 0.00002
NM_000018.4(ACADVL):c.957G>A (p.Ser319=) rs143870522 0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000018.4(ACADVL):c.1575C>A (p.Val525=) rs745996278 0.00001
NM_000018.4(ACADVL):c.1599C>T (p.Gly533=) rs779770406 0.00001
NM_000018.4(ACADVL):c.1827+10G>A rs766755156 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.278-8C>T rs1178133251 0.00001
NM_000018.4(ACADVL):c.342+18G>A rs372594520 0.00001
NM_000018.4(ACADVL):c.867G>T (p.Gly289=) rs745557512 0.00001
NM_000018.4(ACADVL):c.879-16C>A rs780626099 0.00001
NM_000018.4(ACADVL):c.969G>A (p.Leu323=) rs749734276 0.00001
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=) rs2071338251
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg) rs771117714
NM_000018.4(ACADVL):c.1533G>A (p.Arg511=) rs886038214
NM_000018.4(ACADVL):c.1679-5del rs1555528999
NM_000018.4(ACADVL):c.180G>C (p.Leu60=) rs886053372
NM_000018.4(ACADVL):c.1881G>A (p.Gln627=) rs931018661
NM_000018.4(ACADVL):c.477+17G>A rs375076326
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.4(ACADVL):c.753-9C>T rs1262931604

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