ClinVar Miner

List of variants studied for Carnitine palmitoyl transferase 1A deficiency by Counsyl

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr) rs189174414 0.00020
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001876.4(CPT1A):c.1163+1G>A rs148059333 0.00005
NM_001876.4(CPT1A):c.1386del (p.Phe462fs) rs753776604 0.00002
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg) rs80356784 0.00001
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) rs80356780 0.00001
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter) rs779893091 0.00001
NM_001876.4(CPT1A):c.1163+2T>C rs1555229059
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del) rs747376723
NM_001876.4(CPT1A):c.1298del (p.Asp433fs) rs1057516304
NM_001876.4(CPT1A):c.1348_1352+4del rs1555228640
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu) rs1478167106
NM_001876.4(CPT1A):c.1458+1G>A rs1555228470
NM_001876.4(CPT1A):c.1459-1G>A rs1057517046
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1575+1G>A rs1282293820
NM_001876.4(CPT1A):c.1576-2A>G rs1555227607
NM_001876.4(CPT1A):c.1711C>T (p.Gln571Ter) rs1057516586
NM_001876.4(CPT1A):c.186G>A (p.Trp62Ter) rs1057516434
NM_001876.4(CPT1A):c.1875+10_1875+33del rs1555226542
NM_001876.4(CPT1A):c.1876-1G>A rs80356798
NM_001876.4(CPT1A):c.1876-1G>C rs80356798
NM_001876.4(CPT1A):c.194TGG[2] (p.Val67del) rs1555232255
NM_001876.4(CPT1A):c.1997_1998insAAAA (p.Tyr666Ter) rs1057516800
NM_001876.4(CPT1A):c.2028+2T>G rs1555226417
NM_001876.4(CPT1A):c.2071C>T (p.Gln691Ter) rs765161206
NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) rs398123654
NM_001876.4(CPT1A):c.2236-1G>A rs1555226004
NM_001876.4(CPT1A):c.282-1G>A rs1057517188
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter) rs80356774
NM_001876.4(CPT1A):c.693+1G>C rs1055176086
NM_001876.4(CPT1A):c.693+1G>T rs1055176086
NM_001876.4(CPT1A):c.694-2A>G rs1555230518
NM_001876.4(CPT1A):c.771+1G>C rs1555230494
NM_001876.4(CPT1A):c.772-1G>A rs1555230326
NM_001876.4(CPT1A):c.772-2A>G rs1057517245
NM_001876.4(CPT1A):c.919C>T (p.Gln307Ter) rs1057516396
NM_001876.4(CPT1A):c.967+1G>A rs112498048
NM_001876.4(CPT1A):c.967+2T>C rs1224226554

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