ClinVar Miner

List of variants reported as likely benign for Carnitine acylcarnitine translocase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_000387.6(SLC25A20):c.720A>G (p.Ala240=) rs142417191 0.00031
NM_000387.6(SLC25A20):c.535+6C>T rs199770033 0.00013
NM_000387.6(SLC25A20):c.844-19C>T rs1057522215 0.00004
NM_000387.6(SLC25A20):c.719-9G>A rs973098577 0.00003
NM_000387.6(SLC25A20):c.844-11T>C rs776093253 0.00003
NM_000387.6(SLC25A20):c.195A>G (p.Arg65=) rs776205534 0.00002
NM_000387.6(SLC25A20):c.608+12A>G rs773824427 0.00002
NM_000387.6(SLC25A20):c.719-10T>C rs769684089 0.00002
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=) rs766966542 0.00002
NM_000387.6(SLC25A20):c.105+14G>A rs755691674 0.00001
NM_000387.6(SLC25A20):c.327-13G>C rs781297561 0.00001
NM_000387.6(SLC25A20):c.570T>C (p.Tyr190=) rs144972397 0.00001
NM_000387.6(SLC25A20):c.597G>A (p.Pro199=) rs142911267 0.00001
NM_000387.6(SLC25A20):c.844-6T>C rs760652203 0.00001
NM_000387.6(SLC25A20):c.105+15G>T
NM_000387.6(SLC25A20):c.105+18G>T
NM_000387.6(SLC25A20):c.105+7_105+10dup rs775942451
NM_000387.6(SLC25A20):c.105+8A>T
NM_000387.6(SLC25A20):c.106-11T>C
NM_000387.6(SLC25A20):c.106-20A>C
NM_000387.6(SLC25A20):c.106-20A>G
NM_000387.6(SLC25A20):c.106-4T>C
NM_000387.6(SLC25A20):c.106-7T>C
NM_000387.6(SLC25A20):c.106-8G>A
NM_000387.6(SLC25A20):c.129G>A (p.Pro43=)
NM_000387.6(SLC25A20):c.159T>C (p.Ser53=)
NM_000387.6(SLC25A20):c.171C>T (p.Asp57=)
NM_000387.6(SLC25A20):c.183G>A (p.Lys61=)
NM_000387.6(SLC25A20):c.198+11G>A rs2106665785
NM_000387.6(SLC25A20):c.198+13T>C
NM_000387.6(SLC25A20):c.198+15C>A
NM_000387.6(SLC25A20):c.198+19G>A rs199753606
NM_000387.6(SLC25A20):c.198+19G>T
NM_000387.6(SLC25A20):c.198+7A>G
NM_000387.6(SLC25A20):c.199-14G>C
NM_000387.6(SLC25A20):c.199-20G>A
NM_000387.6(SLC25A20):c.199-5del
NM_000387.6(SLC25A20):c.199-6T>A
NM_000387.6(SLC25A20):c.199-7C>T
NM_000387.6(SLC25A20):c.201C>T (p.Gly67=)
NM_000387.6(SLC25A20):c.213A>G (p.Leu71=)
NM_000387.6(SLC25A20):c.237C>T (p.Ile79=)
NM_000387.6(SLC25A20):c.240C>T (p.Ile80=)
NM_000387.6(SLC25A20):c.261C>T (p.Ala87=)
NM_000387.6(SLC25A20):c.27C>T (p.Ser9=)
NM_000387.6(SLC25A20):c.288G>A (p.Gly96=)
NM_000387.6(SLC25A20):c.294A>G (p.Lys98=)
NM_000387.6(SLC25A20):c.297A>G (p.Leu99=)
NM_000387.6(SLC25A20):c.306A>G (p.Lys102=)
NM_000387.6(SLC25A20):c.30G>A (p.Pro10=)
NM_000387.6(SLC25A20):c.324C>T (p.Leu108=)
NM_000387.6(SLC25A20):c.326+11A>G
NM_000387.6(SLC25A20):c.326+15G>T
NM_000387.6(SLC25A20):c.326+8C>T
NM_000387.6(SLC25A20):c.327-20G>A
NM_000387.6(SLC25A20):c.327-7A>G
NM_000387.6(SLC25A20):c.363C>G (p.Gly121=)
NM_000387.6(SLC25A20):c.363C>T (p.Gly121=)
NM_000387.6(SLC25A20):c.375A>G (p.Thr125=)
NM_000387.6(SLC25A20):c.402C>T (p.Ile134=)
NM_000387.6(SLC25A20):c.408C>T (p.Cys136=)
NM_000387.6(SLC25A20):c.411A>G (p.Leu137=)
NM_000387.6(SLC25A20):c.417+9G>A
NM_000387.6(SLC25A20):c.418-14C>A
NM_000387.6(SLC25A20):c.418-8C>T
NM_000387.6(SLC25A20):c.432A>C (p.Ser144=)
NM_000387.6(SLC25A20):c.453T>C (p.Gly151=)
NM_000387.6(SLC25A20):c.486G>A (p.Glu162=)
NM_000387.6(SLC25A20):c.492G>C (p.Gly164=)
NM_000387.6(SLC25A20):c.516T>C (p.Thr172=)
NM_000387.6(SLC25A20):c.519G>C (p.Val173=)
NM_000387.6(SLC25A20):c.51C>A (p.Gly17=)
NM_000387.6(SLC25A20):c.525C>T (p.Thr175=)
NM_000387.6(SLC25A20):c.535+13G>A
NM_000387.6(SLC25A20):c.536-10C>T
NM_000387.6(SLC25A20):c.536-13_536-3del
NM_000387.6(SLC25A20):c.540C>G (p.Val180=)
NM_000387.6(SLC25A20):c.591C>T (p.Phe197=)
NM_000387.6(SLC25A20):c.600G>A (p.Glu200=)
NM_000387.6(SLC25A20):c.609-12G>T
NM_000387.6(SLC25A20):c.609-14T>C
NM_000387.6(SLC25A20):c.609-19T>C
NM_000387.6(SLC25A20):c.609-5T>C
NM_000387.6(SLC25A20):c.612C>T (p.Val204=)
NM_000387.6(SLC25A20):c.654T>A (p.Ile218=)
NM_000387.6(SLC25A20):c.669C>T (p.Asn223=)
NM_000387.6(SLC25A20):c.706C>A (p.Arg236=)
NM_000387.6(SLC25A20):c.718+12G>A
NM_000387.6(SLC25A20):c.718+12G>C
NM_000387.6(SLC25A20):c.719-18T>C
NM_000387.6(SLC25A20):c.719-5C>T
NM_000387.6(SLC25A20):c.72G>T (p.Leu24=)
NM_000387.6(SLC25A20):c.738T>C (p.Pro246=)
NM_000387.6(SLC25A20):c.771C>T (p.Ile257=)
NM_000387.6(SLC25A20):c.783A>C (p.Gly261=)
NM_000387.6(SLC25A20):c.816G>A (p.Val272=)
NM_000387.6(SLC25A20):c.844-12A>T
NM_000387.6(SLC25A20):c.844-5C>T
NM_000387.6(SLC25A20):c.861T>C (p.Phe287=)
NM_000387.6(SLC25A20):c.882T>C (p.Leu294=)
NM_000387.6(SLC25A20):c.901T>C (p.Leu301=)
NM_000387.6(SLC25A20):c.90T>G (p.Pro30=)
NM_000387.6(SLC25A20):c.91C>T (p.Leu31=)
NM_000387.6(SLC25A20):c.99G>A (p.Thr33=)
NM_000387.6(SLC25A20):c.99G>T (p.Thr33=)

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