ClinVar Miner

List of variants reported as benign for cardiomyopathy-hypotonia-lactic acidosis syndrome

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002635.4(SLC25A3):c.*211T>A rs76488843 0.11857
NM_005888.3(SLC25A3):c.-78G>A rs28372744 0.04592
NM_002635.4(SLC25A3):c.436T>C (p.Leu146=) rs11544648 0.03180
NM_002635.4(SLC25A3):c.*221T>G rs115173420 0.02826
NM_005888.3(SLC25A3):c.-92G>A rs115763433 0.00509
NM_002635.4(SLC25A3):c.*102C>A rs74604883 0.00438

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