ClinVar Miner

List of variants in gene CPT1A, LOC126861244 studied for carnitine palmitoyl transferase 1A deficiency

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.1251T>C (p.Phe417=) rs2228502 0.92020
NM_001876.4(CPT1A):c.1251= (p.Phe417=) rs2228502 0.07980
NM_001876.4(CPT1A):c.1340G>A (p.Arg447Gln) rs757593086 0.00010
NM_001876.4(CPT1A):c.1302G>A (p.Thr434=) rs1424284180 0.00004
NM_001876.4(CPT1A):c.1352+14C>A rs777403181 0.00003
NM_001876.4(CPT1A):c.1245G>A (p.Ala415=) rs750166396 0.00002
NM_001876.4(CPT1A):c.1257G>A (p.Thr419=) rs764443409 0.00002
NM_001876.4(CPT1A):c.1317C>T (p.Tyr439=) rs140332936 0.00002
NM_001876.4(CPT1A):c.1335C>T (p.His445=) rs768418242 0.00002
NM_001876.4(CPT1A):c.1352+6G>A rs541440067 0.00002
NM_001876.4(CPT1A):c.1199G>C (p.Gly400Ala) rs889632692 0.00001
NM_001876.4(CPT1A):c.1244C>T (p.Ala415Val) rs528019785 0.00001
NM_001876.4(CPT1A):c.1268C>T (p.Thr423Ile) rs1198520664 0.00001
NM_001876.4(CPT1A):c.1320C>T (p.Ala440=) rs773343849 0.00001
NM_001876.4(CPT1A):c.1347C>T (p.Tyr449=) rs769751060 0.00001
NM_001876.4(CPT1A):c.1348G>A (p.Asp450Asn) rs745680805 0.00001
NM_001876.4(CPT1A):c.1164-13A>G
NM_001876.4(CPT1A):c.1164-14C>T
NM_001876.4(CPT1A):c.1164-20G>A
NM_001876.4(CPT1A):c.1164-2A>G
NM_001876.4(CPT1A):c.1165G>A (p.Val389Ile)
NM_001876.4(CPT1A):c.1172G>A (p.Trp391Ter)
NM_001876.4(CPT1A):c.1173G>A (p.Trp391Ter)
NM_001876.4(CPT1A):c.1183C>T (p.Arg395Cys) rs1451283997
NM_001876.4(CPT1A):c.1188G>A (p.Gln396=)
NM_001876.4(CPT1A):c.1192T>C (p.Tyr398His) rs2153997934
NM_001876.4(CPT1A):c.1201C>T (p.Arg401Cys)
NM_001876.4(CPT1A):c.1202G>A (p.Arg401His)
NM_001876.4(CPT1A):c.1203del (p.Asn404fs)
NM_001876.4(CPT1A):c.1213A>T (p.Lys405Ter)
NM_001876.4(CPT1A):c.1215G>A (p.Lys405=) rs1445775305
NM_001876.4(CPT1A):c.1216C>T (p.Gln406Ter) rs1594334937
NM_001876.4(CPT1A):c.1218G>A (p.Gln406=)
NM_001876.4(CPT1A):c.1227T>C (p.Asp409=) rs1185206458
NM_001876.4(CPT1A):c.1234G>A (p.Glu412Lys) rs1855322463
NM_001876.4(CPT1A):c.1239A>G (p.Lys413=) rs1274403290
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val) rs80356790
NM_001876.4(CPT1A):c.1252G>A (p.Val418Met)
NM_001876.4(CPT1A):c.1257G>T (p.Thr419=)
NM_001876.4(CPT1A):c.1269T>C (p.Thr423=) rs2153997923
NM_001876.4(CPT1A):c.1271AAG[1] (p.Glu425del) rs747376723
NM_001876.4(CPT1A):c.1272A>G (p.Glu424=)
NM_001876.4(CPT1A):c.1284A>G (p.Arg428=) rs2153997922
NM_001876.4(CPT1A):c.1296G>A (p.Pro432=) rs756320661
NM_001876.4(CPT1A):c.1296G>C (p.Pro432=) rs756320661
NM_001876.4(CPT1A):c.1298del (p.Asp433fs) rs1057516304
NM_001876.4(CPT1A):c.1301C>T (p.Thr434Met)
NM_001876.4(CPT1A):c.1323A>G (p.Lys441=) rs2153997916
NM_001876.4(CPT1A):c.1325C>A (p.Ser442Tyr) rs2153997915
NM_001876.4(CPT1A):c.1328dup (p.Leu444fs) rs2153997913
NM_001876.4(CPT1A):c.1329A>G (p.Leu443=) rs2153997912
NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter) rs397515543
NM_001876.4(CPT1A):c.1347C>G (p.Tyr449Ter)
NM_001876.4(CPT1A):c.1348_1352+4del rs1555228640
NM_001876.4(CPT1A):c.1350C>T (p.Asp450=) rs2153997906
NM_001876.4(CPT1A):c.1352+13C>T
NM_001876.4(CPT1A):c.1352+14C>G
NM_001876.4(CPT1A):c.1352+1G>C

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