ClinVar Miner

List of variants in gene ACADVL reported as benign for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_000018.4(ACADVL):c.478-106del rs370388543 0.52051
NM_000018.4(ACADVL):c.478-22_478-21del rs60400822 0.07027
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573 0.02419
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988 0.00560
NM_000018.4(ACADVL):c.879-50G>T rs11870841 0.00481
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.663C>T (p.Ser221=) rs144255994 0.00116
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.477+16C>T rs202059117 0.00013
NM_000018.4(ACADVL):c.478-89T>C rs9646410 0.00013
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.278-12del rs2142966623
NM_000018.4(ACADVL):c.478-6del rs2071224181
NM_000018.4(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000018.4(ACADVL):c.753-27C>T rs374911841
NM_000018.4(ACADVL):c.878+22del

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