ClinVar Miner

List of variants in gene CPT1A reported as benign

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001876.4(CPT1A):c.556-16C>T rs3019603 0.94412
NM_001876.4(CPT1A):c.1353-47G>T rs3019576 0.92001
NM_001876.4(CPT1A):c.454-208C>T rs2924674 0.91736
NM_001876.4(CPT1A):c.1352+220A>G rs4261294 0.91564
NM_001876.4(CPT1A):c.1876-203G>A rs3019597 0.86196
NM_001876.4(CPT1A):c.1876-223G>C rs897048 0.75109
NM_001876.4(CPT1A):c.2142+93C>T rs3019598 0.35902
NC_000011.10:g.68754585G>A rs3018712 0.14685
NM_001876.4(CPT1A):c.880-134A>C rs3763830 0.13363
NM_001876.4(CPT1A):c.880-261T>C rs11228357 0.13329
NM_001876.4(CPT1A):c.281+310G>C rs2278906 0.12767
NM_001876.4(CPT1A):c.1741-28G>A rs2924699 0.12427
NM_001876.4(CPT1A):c.281+266G>A rs2278905 0.10048
NM_001876.4(CPT1A):c.694-272G>A rs7925592 0.08661
NM_001876.4(CPT1A):c.963G>A (p.Glu321=) rs2229737 0.08543
NM_001876.4(CPT1A):c.968-8C>T rs2305507 0.08414
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_001876.4(CPT1A):c.282-71C>T rs41302431 0.03751
NM_001876.4(CPT1A):c.555+156del rs60624953 0.03627
NM_001876.4(CPT1A):c.454-222G>C rs58382550 0.02493
NM_001876.4(CPT1A):c.454-162A>G rs58341713 0.02392
NM_001876.4(CPT1A):c.453+166A>C rs7108728 0.02165
NM_001876.4(CPT1A):c.240G>A (p.Ser80=) rs61731904 0.02145
NM_001876.4(CPT1A):c.967+3G>A rs75677837 0.01623
NM_001876.4(CPT1A):c.556-19T>G rs117610994 0.00984
NM_001876.4(CPT1A):c.282-236G>A rs148206888 0.00898
NM_001876.4(CPT1A):c.1941C>G (p.Ala647=) rs115731492 0.00879
NM_001876.4(CPT1A):c.2004T>C (p.Ala668=) rs2228503 0.00879
NM_001876.4(CPT1A):c.1908G>A (p.Ala636=) rs111407620 0.00743
NM_001876.4(CPT1A):c.1529C>T (p.Pro510Leu) rs61731906 0.00724
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_001876.4(CPT1A):c.556-16_556-15insT rs539173750 0.00414
NM_001876.4(CPT1A):c.302C>T (p.Thr101Met) rs61731903 0.00262
NM_001876.4(CPT1A):c.453+9G>A rs183694834 0.00070
NM_001876.4(CPT1A):c.142-17C>G rs201203984 0.00056
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.142-16G>A rs201717907 0.00027
NM_001876.4(CPT1A):c.1083G>A (p.Gln361=) rs761229343 0.00006
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) rs80356779 0.00006
NM_001876.4(CPT1A):c.1055G>A (p.Arg352Gln) rs374383052 0.00003
NM_001876.4(CPT1A):c.518G>A (p.Arg173His) rs199589844 0.00003
NM_001876.4(CPT1A):c.1575+8C>T rs372364901 0.00002
NM_001876.4(CPT1A):c.693+35T>A rs61887064 0.00001
NM_001876.4(CPT1A):c.1353-255C>T rs11228349
NM_001876.4(CPT1A):c.1741-89G>T rs7112615
NM_001876.4(CPT1A):c.1876-256dup rs5792450
NM_001876.4(CPT1A):c.2143-225GT[8] rs34518934
NM_001876.4(CPT1A):c.282-11T>C
NM_001876.4(CPT1A):c.555+157_555+158del rs146360664
NM_001876.4(CPT1A):c.555+243ATTTT[11] rs59753299
NM_001876.4(CPT1A):c.555+243ATTTT[12] rs59753299
NM_001876.4(CPT1A):c.555+243ATTTT[6] rs59753299
NM_001876.4(CPT1A):c.555+243ATTTT[7] rs59753299
NM_001876.4(CPT1A):c.555+243ATTTT[8] rs59753299
NM_001876.4(CPT1A):c.556-12del rs113037606
NM_001876.4(CPT1A):c.556-17del
NM_001876.4(CPT1A):c.556-17dup
NM_001876.4(CPT1A):c.693+34_693+35insAGCG rs371123694
NM_001876.4(CPT1A):c.693+34dup rs753779449
NM_001876.4(CPT1A):c.693+36T>C rs61887063
NM_001876.4(CPT1A):c.693+36T>G rs61887063
NM_001876.4(CPT1A):c.693+37T>C rs61887062
NM_001876.4(CPT1A):c.771+80del rs141474465
NM_001876.4(CPT1A):c.967+243ATTT[5] rs10591978

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