ClinVar Miner

List of variants studied for Carnitine acylcarnitine translocase deficiency by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
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.106-2A>T rs587777287
NM_000387.6(SLC25A20):c.200_326+1del rs1553686314
NM_000387.6(SLC25A20):c.576G>A (p.Trp192Ter) rs587777286
NM_000387.6(SLC25A20):c.713A>G (p.Gln238Arg) rs28934589
NM_000387.6(SLC25A20):c.897dup (p.Asn300fs) rs587776759
SLC25A20, 110-BP DEL

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