List of variants reported as pathogenic for Carnitine acylcarnitine translocase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter)	rs778220325	0.00005
NM_000387.6(SLC25A20):c.199-10T>G	rs541208710	0.00003
NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter)	rs151340616	0.00001
NM_000387.6(SLC25A20):c.84del (p.His29fs)	rs587776760	0.00001
NM_000387.6(SLC25A20):c.270del (p.Phe91fs)	rs1575989549
NM_000387.6(SLC25A20):c.326+1del	rs757552268
NM_000387.6(SLC25A20):c.528del (p.Met177fs)	rs997204610
NM_000387.6(SLC25A20):c.804del (p.Phe269fs)	rs753414360
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys)	rs747335514
NM_000387.6(SLC25A20):c.897dup (p.Asn300fs)	rs587776759

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