ClinVar Miner

List of variants reported as benign for cardiomyopathy by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1605+6T>C rs17671352 0.56622
NM_000018.4(ACADVL):c.478-22_478-21del rs60400822 0.07027
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_000018.4(ACADVL):c.128G>A (p.Gly43Asp) rs2230178 0.02763
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
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.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.1077+15C>T rs202237278 0.00041
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
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.343-14T>C rs200368309 0.00003

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