ClinVar Miner

List of variants in gene ACACA studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP gnomAD frequency
NM_198834.3(ACACA):c.1923G>A (p.Gln641=) rs2229416 0.11510
NM_198834.3(ACACA):c.721-16T>C rs2302803 0.07334
NM_198834.3(ACACA):c.6444A>C (p.Arg2148=) rs55811414 0.03612
NM_198834.3(ACACA):c.4201-16T>C rs17848775 0.01394
NM_198834.3(ACACA):c.2082-10_2082-8dup rs147020148 0.01218
NM_198834.3(ACACA):c.3122-6G>A rs148549486 0.00565
NM_198834.3(ACACA):c.547C>A (p.Arg183=) rs111441513 0.00408
NM_198834.3(ACACA):c.1009-3A>C rs184995115 0.00298
NM_198834.3(ACACA):c.6924G>A (p.Ala2308=) rs141608509 0.00298
NM_198834.3(ACACA):c.3851+13G>A rs138542261 0.00249
NM_198834.3(ACACA):c.5350-11G>A rs78829386 0.00186
NM_198834.3(ACACA):c.3475-10T>C rs192888791 0.00182
NM_198834.3(ACACA):c.1500+19G>A rs75820734 0.00173
NM_198834.3(ACACA):c.6634C>T (p.Leu2212=) rs148586245 0.00111
NM_198834.3(ACACA):c.908G>A (p.Arg303His) rs73982299 0.00095
NM_198834.3(ACACA):c.2749G>C (p.Asp917His) rs17848759 0.00082
NM_198834.3(ACACA):c.4057-5C>T rs200301970 0.00065
NM_198834.3(ACACA):c.3483C>T (p.Ile1161=) rs143037161 0.00048
NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu) rs140628687 0.00047
NM_198834.3(ACACA):c.1120-8T>C rs139772228 0.00042
NM_198834.3(ACACA):c.1878T>A (p.Thr626=) rs372702647 0.00031
NM_198834.3(ACACA):c.2436C>T (p.Ala812=) rs148504028 0.00021
NM_198834.3(ACACA):c.6923C>T (p.Ala2308Val) rs146351326 0.00020
NM_198834.3(ACACA):c.2971C>T (p.Arg991Trp) rs200184474 0.00019
NM_198834.3(ACACA):c.2163+16T>C rs144109422 0.00014
NM_198834.3(ACACA):c.1120-15C>T rs566333840 0.00010
NM_198834.3(ACACA):c.639G>A (p.Val213=) rs536878948 0.00006
NM_198834.3(ACACA):c.4158+15C>G rs1323975716 0.00003
NM_198834.3(ACACA):c.4666C>T (p.Leu1556=) rs752959818 0.00002
NM_198834.3(ACACA):c.1977+19A>C rs1192002852 0.00001
NM_198834.3(ACACA):c.2183A>G (p.Asn728Ser) rs2080807403 0.00001
NM_198834.3(ACACA):c.3567G>T (p.Val1189=) rs767413869 0.00001
NM_198834.3(ACACA):c.6576G>A (p.Glu2192=) rs370402631 0.00001
NM_198834.3(ACACA):c.926A>G (p.Asn309Ser) rs760250740 0.00001
NC_000017.11:g.37221843del
NM_198834.3(ACACA):c.1008+9C>T
NM_198834.3(ACACA):c.1026A>G (p.Gly342=)
NM_198834.3(ACACA):c.1070G>A (p.Gly357Glu)
NM_198834.3(ACACA):c.1089T>C (p.Asn363=)
NM_198834.3(ACACA):c.1120-14C>G
NM_198834.3(ACACA):c.1120-19T>C
NM_198834.3(ACACA):c.1120-19del rs111738937
NM_198834.3(ACACA):c.1120-19dup rs111738937
NM_198834.3(ACACA):c.1120-1G>A
NM_198834.3(ACACA):c.1178G>A (p.Arg393His)
NM_198834.3(ACACA):c.120A>G (p.Glu40=)
NM_198834.3(ACACA):c.1329+3A>G
NM_198834.3(ACACA):c.1329+7A>G
NM_198834.3(ACACA):c.1330-4T>A
NM_198834.3(ACACA):c.1335G>A (p.Ala445=)
NM_198834.3(ACACA):c.1500+11del
NM_198834.3(ACACA):c.1563C>G (p.Pro521=) rs2081305586
NM_198834.3(ACACA):c.1602C>T (p.His534=)
NM_198834.3(ACACA):c.1662+5C>G rs2081301736
NM_198834.3(ACACA):c.1721T>G (p.Val574Gly)
NM_198834.3(ACACA):c.1819G>A (p.Ala607Thr)
NM_198834.3(ACACA):c.1854G>A (p.Leu618=)
NM_198834.3(ACACA):c.188A>G (p.Glu63Gly)
NM_198834.3(ACACA):c.1902G>A (p.Leu634=)
NM_198834.3(ACACA):c.191A>T (p.Asp64Val)
NM_198834.3(ACACA):c.1941T>C (p.Thr647=)
NM_198834.3(ACACA):c.1978-13T>G
NM_198834.3(ACACA):c.1995C>T (p.Thr665=)
NM_198834.3(ACACA):c.2025C>T (p.His675=)
NM_198834.3(ACACA):c.2082-10G>A
NM_198834.3(ACACA):c.2082-14C>G
NM_198834.3(ACACA):c.2082-17T>C
NM_198834.3(ACACA):c.2163+14C>A
NM_198834.3(ACACA):c.216C>T (p.Asn72=)
NM_198834.3(ACACA):c.2207G>A (p.Gly736Asp)
NM_198834.3(ACACA):c.2233C>T (p.Arg745Trp)
NM_198834.3(ACACA):c.225G>T (p.Lys75Asn)
NM_198834.3(ACACA):c.2394G>A (p.Lys798=)
NM_198834.3(ACACA):c.2542C>A (p.Pro848Thr)
NM_198834.3(ACACA):c.2595+7A>G
NM_198834.3(ACACA):c.2623C>T (p.Arg875Trp)
NM_198834.3(ACACA):c.2625G>C (p.Arg875=)
NM_198834.3(ACACA):c.2637G>T (p.Thr879=)
NM_198834.3(ACACA):c.2676T>G (p.Tyr892Ter)
NM_198834.3(ACACA):c.2742+7A>G
NM_198834.3(ACACA):c.2743-18C>G
NM_198834.3(ACACA):c.2846C>A (p.Pro949His)
NM_198834.3(ACACA):c.2849A>G (p.Asn950Ser)
NM_198834.3(ACACA):c.2889T>A (p.Ala963=)
NM_198834.3(ACACA):c.2901A>G (p.Thr967=)
NM_198834.3(ACACA):c.2910C>T (p.Leu970=)
NM_198834.3(ACACA):c.2932-19dup
NM_198834.3(ACACA):c.2932-9A>G
NM_198834.3(ACACA):c.2958A>G (p.Ala986=)
NM_198834.3(ACACA):c.3032+17C>G
NM_198834.3(ACACA):c.3077A>T (p.Asp1026Val)
NM_198834.3(ACACA):c.3121+16A>G
NM_198834.3(ACACA):c.314A>T (p.Gln105Leu)
NM_198834.3(ACACA):c.3183A>G (p.Val1061=)
NM_198834.3(ACACA):c.3204C>T (p.His1068=)
NM_198834.3(ACACA):c.3229C>T (p.Leu1077=)
NM_198834.3(ACACA):c.3246+17A>G
NM_198834.3(ACACA):c.3247-15dup
NM_198834.3(ACACA):c.3247-16T>G
NM_198834.3(ACACA):c.3247-6A>G
NM_198834.3(ACACA):c.332A>G (p.His111Arg)
NM_198834.3(ACACA):c.3361-8C>T
NM_198834.3(ACACA):c.338+16A>G
NM_198834.3(ACACA):c.3474+2TA[8]
NM_198834.3(ACACA):c.3475-20C>T
NM_198834.3(ACACA):c.3475-6T>A
NM_198834.3(ACACA):c.3558T>G (p.Ala1186=)
NM_198834.3(ACACA):c.3564+4A>G
NM_198834.3(ACACA):c.3617G>A (p.Arg1206His)
NM_198834.3(ACACA):c.364G>A (p.Val122Ile) rs2146612065
NM_198834.3(ACACA):c.3683+15G>A
NM_198834.3(ACACA):c.3683+17A>T
NM_198834.3(ACACA):c.3707+14A>G
NM_198834.3(ACACA):c.3707+5C>T
NM_198834.3(ACACA):c.3708-20G>A
NM_198834.3(ACACA):c.3708-6A>G
NM_198834.3(ACACA):c.373G>A (p.Gly125Ser) rs778310964
NM_198834.3(ACACA):c.3742A>G (p.Met1248Val)
NM_198834.3(ACACA):c.3829C>T (p.Arg1277Trp)
NM_198834.3(ACACA):c.3852-11G>T
NM_198834.3(ACACA):c.3901C>G (p.Pro1301Ala)
NM_198834.3(ACACA):c.3927G>A (p.Thr1309=)
NM_198834.3(ACACA):c.4032G>T (p.Met1344Ile)
NM_198834.3(ACACA):c.4049A>C (p.Gln1350Pro)
NM_198834.3(ACACA):c.4076A>G (p.His1359Arg)
NM_198834.3(ACACA):c.4114-10_4114-6del
NM_198834.3(ACACA):c.4148G>A (p.Arg1383Gln)
NM_198834.3(ACACA):c.4158+16A>C
NM_198834.3(ACACA):c.4158+17A>G
NM_198834.3(ACACA):c.4201-20dup
NM_198834.3(ACACA):c.420T>G (p.Ala140=)
NM_198834.3(ACACA):c.4324C>G (p.Leu1442Val)
NM_198834.3(ACACA):c.4416+11T>A
NM_198834.3(ACACA):c.4440A>G (p.Gln1480=)
NM_198834.3(ACACA):c.4497C>T (p.Asn1499=)
NM_198834.3(ACACA):c.451G>A (p.Gly151Arg) rs2146611168
NM_198834.3(ACACA):c.4627T>C (p.Leu1543=) rs2077619955
NM_198834.3(ACACA):c.471+15_471+16delinsTT
NM_198834.3(ACACA):c.4713C>T (p.Asn1571=)
NM_198834.3(ACACA):c.472-3C>T
NM_198834.3(ACACA):c.4733A>G (p.Asp1578Gly)
NM_198834.3(ACACA):c.475C>G (p.Leu159Val)
NM_198834.3(ACACA):c.4777-7C>G rs6607364
NM_198834.3(ACACA):c.4777-7C>T
NM_198834.3(ACACA):c.4777-7_4777-6insG
NM_198834.3(ACACA):c.4777-8dup rs149182938
NM_198834.3(ACACA):c.4777-9T>G
NM_198834.3(ACACA):c.4850A>G (p.Lys1617Arg)
NM_198834.3(ACACA):c.4872G>A (p.Arg1624=)
NM_198834.3(ACACA):c.494T>C (p.Ile165Thr)
NM_198834.3(ACACA):c.4968A>G (p.Gln1656=)
NM_198834.3(ACACA):c.4983T>C (p.Ser1661=)
NM_198834.3(ACACA):c.5007G>A (p.Leu1669=)
NM_198834.3(ACACA):c.5020C>A (p.Leu1674Met)
NM_198834.3(ACACA):c.5121A>G (p.Glu1707=)
NM_198834.3(ACACA):c.5134C>T (p.Arg1712Ter)
NM_198834.3(ACACA):c.5349+10A>G
NM_198834.3(ACACA):c.5352A>G (p.Gly1784=)
NM_198834.3(ACACA):c.5357G>C (p.Arg1786Thr)
NM_198834.3(ACACA):c.5424C>T (p.His1808=)
NM_198834.3(ACACA):c.5447+14T>C
NM_198834.3(ACACA):c.5447+20A>G
NM_198834.3(ACACA):c.5493C>G (p.Pro1831=) rs201991547
NM_198834.3(ACACA):c.5493C>T (p.Pro1831=)
NM_198834.3(ACACA):c.5574G>A (p.Thr1858=)
NM_198834.3(ACACA):c.5665G>A (p.Gly1889Arg)
NM_198834.3(ACACA):c.5679+10T>C
NM_198834.3(ACACA):c.5679+13G>A
NM_198834.3(ACACA):c.5679+19G>A
NM_198834.3(ACACA):c.5680-5T>G
NM_198834.3(ACACA):c.5685C>T (p.Leu1895=)
NM_198834.3(ACACA):c.5689C>T (p.Arg1897Trp)
NM_198834.3(ACACA):c.5690G>A (p.Arg1897Gln)
NM_198834.3(ACACA):c.5697G>C (p.Val1899=) rs760415282
NM_198834.3(ACACA):c.5700C>T (p.Tyr1900=)
NM_198834.3(ACACA):c.5708A>G (p.Asn1903Ser)
NM_198834.3(ACACA):c.570C>T (p.Phe190=)
NM_198834.3(ACACA):c.5737C>T (p.His1913Tyr)
NM_198834.3(ACACA):c.5752A>G (p.Thr1918Ala)
NM_198834.3(ACACA):c.5824-20C>T
NM_198834.3(ACACA):c.5945-13T>C
NM_198834.3(ACACA):c.5945-22TTTC[2]
NM_198834.3(ACACA):c.5962T>C (p.Leu1988=)
NM_198834.3(ACACA):c.5974T>C (p.Phe1992Leu)
NM_198834.3(ACACA):c.6020C>T (p.Thr2007Ile) rs1555553200
NM_198834.3(ACACA):c.6029T>C (p.Val2010Ala)
NM_198834.3(ACACA):c.6033T>C (p.Gly2011=)
NM_198834.3(ACACA):c.6041+7G>A rs2074748273
NM_198834.3(ACACA):c.6042-14T>C
NM_198834.3(ACACA):c.6042-3C>T
NM_198834.3(ACACA):c.609A>G (p.Ala203=) rs773632926
NM_198834.3(ACACA):c.610+12G>A
NM_198834.3(ACACA):c.6189= (p.Thr2063=)
NM_198834.3(ACACA):c.6189G>A (p.Thr2063=)
NM_198834.3(ACACA):c.6189G>C (p.Thr2063=)
NM_198834.3(ACACA):c.6210C>T (p.Phe2070=)
NM_198834.3(ACACA):c.6213C>T (p.Asn2071=)
NM_198834.3(ACACA):c.6275-16G>T
NM_198834.3(ACACA):c.6275-6C>T
NM_198834.3(ACACA):c.6282C>T (p.Tyr2094=)
NM_198834.3(ACACA):c.6313G>T (p.Val2105Leu)
NM_198834.3(ACACA):c.6361C>G (p.Pro2121Ala)
NM_198834.3(ACACA):c.6366G>T (p.Gln2122His)
NM_198834.3(ACACA):c.6384C>T (p.Gly2128=)
NM_198834.3(ACACA):c.6442C>T (p.Arg2148Ter)
NM_198834.3(ACACA):c.6452+6G>T
NM_198834.3(ACACA):c.6483A>G (p.Val2161=)
NM_198834.3(ACACA):c.6534C>T (p.Asp2178=)
NM_198834.3(ACACA):c.6566G>A (p.Gly2189Glu)
NM_198834.3(ACACA):c.6577C>G (p.Leu2193Val)
NM_198834.3(ACACA):c.6592C>T (p.Arg2198Trp)
NM_198834.3(ACACA):c.6593G>A (p.Arg2198Gln)
NM_198834.3(ACACA):c.6682G>A (p.Asp2228Asn)
NM_198834.3(ACACA):c.6696G>A (p.Arg2232=)
NM_198834.3(ACACA):c.6720+14T>G
NM_198834.3(ACACA):c.6720+2dup
NM_198834.3(ACACA):c.6969G>A (p.Ser2323=)
NM_198834.3(ACACA):c.7008C>T (p.Tyr2336=)
NM_198834.3(ACACA):c.7014C>T (p.Leu2338=)
NM_198834.3(ACACA):c.7028+11C>T
NM_198834.3(ACACA):c.7028+12G>A
NM_198834.3(ACACA):c.7028+20C>T
NM_198834.3(ACACA):c.7080G>C (p.Thr2360=)
NM_198834.3(ACACA):c.7118G>A (p.Arg2373Gln)
NM_198834.3(ACACA):c.768G>A (p.Pro256=)
NM_198834.3(ACACA):c.786T>C (p.Asn262=)
NM_198834.3(ACACA):c.802+10T>A
NM_198834.3(ACACA):c.803-6T>C
NM_198834.3(ACACA):c.803-9C>T
NM_198834.3(ACACA):c.814C>T (p.Gln272Ter) rs1555625957
NM_198834.3(ACACA):c.878C>G (p.Pro293Arg)
NM_198834.3(ACACA):c.880A>T (p.Thr294Ser)
NM_198834.3(ACACA):c.901+7A>G
NM_198834.3(ACACA):c.902-15T>A
NM_198834.3(ACACA):c.999T>C (p.Asp333=) rs1419961791

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