ClinVar Miner

List of variants in gene CPT1A reported as uncertain significance for not provided

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_001876.4(CPT1A):c.853A>C (p.Lys285Gln) rs77477448 0.00093
NM_001876.4(CPT1A):c.961G>A (p.Glu321Lys) rs114030714 0.00081
NM_001876.4(CPT1A):c.1876G>C (p.Val626Leu) rs41302429 0.00029
NM_001876.4(CPT1A):c.851G>A (p.Arg284His) rs144866081 0.00017
NM_001876.4(CPT1A):c.337G>A (p.Gly113Ser) rs555444012 0.00016
NM_001876.4(CPT1A):c.2235G>A (p.Thr745=) rs202208941 0.00011
NM_001876.4(CPT1A):c.1092G>A (p.Gln364=) rs199640034 0.00010
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val) rs753866589 0.00006
NM_001876.4(CPT1A):c.598A>G (p.Lys200Glu) rs201425412 0.00006
NM_001876.4(CPT1A):c.145G>A (p.Gly49Ser) rs552007692 0.00004
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly) rs80356796 0.00003
NM_001876.4(CPT1A):c.136T>C (p.Phe46Leu) rs769222168 0.00001
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln) rs1165511243 0.00001
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn) rs766819782 0.00001
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) rs80356775 0.00001
NM_001876.4(CPT1A):c.407T>C (p.Met136Thr) rs1205599161 0.00001
NM_001876.4(CPT1A):c.495C>T (p.Tyr165=) rs139789100 0.00001
NM_001876.4(CPT1A):c.557A>G (p.Tyr186Cys) rs759188040 0.00001
NM_001876.4(CPT1A):c.883C>T (p.Arg295Cys) rs780487379 0.00001
NM_001876.4(CPT1A):c.1002_1003insT (p.Val335fs) rs1566357672
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001876.4(CPT1A):c.1077G>A (p.Met359Ile) rs1432015707
NM_001876.4(CPT1A):c.1129G>A (p.Glu377Lys) rs1566357386
NM_001876.4(CPT1A):c.1467G>A (p.Met489Ile) rs794727096
NM_001876.4(CPT1A):c.160G>T (p.Val54Leu) rs147389938
NM_001876.4(CPT1A):c.1664G>A (p.Gly555Asp) rs1566348991
NM_001876.4(CPT1A):c.194T>C (p.Val65Ala) rs727503886
NM_001876.4(CPT1A):c.1966C>G (p.His656Asp) rs1405682081
NM_001876.4(CPT1A):c.1993A>G (p.Lys665Glu) rs1566339751
NM_001876.4(CPT1A):c.2246G>T (p.Arg749Leu)

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