ClinVar Miner

List of variants reported as pathogenic for Carnitine acylcarnitine translocase deficiency by Center for Molecular Medicine, Children’s Hospital of Fudan University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000387.6(SLC25A20):c.199-10T>G	rs541208710	0.00003
NM_000387.6(SLC25A20):c.270del (p.Phe91fs)	rs1575989549

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