ClinVar Miner

Variants in gene CPT1A with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
NM_001876.4(CPT1A):c.2142+8C>T rs147563740 0.00054
NM_001876.4(CPT1A):c.2100G>A (p.Glu700=) rs188173541 0.00053
NM_001876.4(CPT1A):c.336C>T (p.Thr112=) rs61731902 0.00039
NM_001876.4(CPT1A):c.1083G>A (p.Gln361=) rs761229343 0.00006
NM_001876.4(CPT1A):c.1575+8C>T rs372364901 0.00002

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