ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
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.1839G>A (p.Arg613=) rs79125791 0.00254
NM_000018.4(ACADVL):c.1828-4C>G rs184559206 0.00192
NM_000018.4(ACADVL):c.1678+23C>T rs147546456 0.00163
NM_000018.4(ACADVL):c.780G>A (p.Thr260=) rs140871321 0.00108
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467 0.00058
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=) rs149436747 0.00035
NM_000018.4(ACADVL):c.622+12C>A rs374633807 0.00011
NM_000018.4(ACADVL):c.1182+17C>A rs191276923 0.00008
NM_000018.4(ACADVL):c.1605+7G>A rs572010910 0.00003
NM_000018.4(ACADVL):c.343-14T>C rs200368309 0.00003
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.753-27C>T rs374911841

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