ClinVar Miner

List of variants in gene ACOX2 reported as uncertain significance for not provided

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Gene type:
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Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_003500.4(ACOX2):c.1582C>G (p.Gln528Glu) rs143228600 0.00094
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp) rs150832314 0.00022
NM_003500.4(ACOX2):c.589C>T (p.Arg197Trp) rs144327887 0.00021
NM_003500.4(ACOX2):c.160+5G>A rs200690240 0.00016
NM_003500.4(ACOX2):c.1087A>T (p.Ser363Cys) rs550491341 0.00010
NM_003500.4(ACOX2):c.1693G>C (p.Glu565Gln) rs141585104 0.00010
NM_003500.4(ACOX2):c.1474G>A (p.Asp492Asn) rs762372178 0.00003
NM_003500.4(ACOX2):c.704-3A>C rs770975088 0.00002
NM_003500.4(ACOX2):c.1156-3C>G rs374565538 0.00001
NM_003500.4(ACOX2):c.1633-2A>G rs748931754 0.00001
NM_003500.4(ACOX2):c.323+2T>C rs751041263 0.00001
NM_003500.4(ACOX2):c.964A>G (p.Ile322Val) rs776048382 0.00001
NC_000003.12:g.58505286_58505288del
NM_003500.4(ACOX2):c.104G>A (p.Arg35Gln)
NM_003500.4(ACOX2):c.1090C>G (p.Leu364Val)
NM_003500.4(ACOX2):c.1091T>C (p.Leu364Pro)
NM_003500.4(ACOX2):c.109A>G (p.Thr37Ala)
NM_003500.4(ACOX2):c.1115A>G (p.Tyr372Cys)
NM_003500.4(ACOX2):c.1150C>T (p.Pro384Ser)
NM_003500.4(ACOX2):c.1162G>A (p.Ala388Thr)
NM_003500.4(ACOX2):c.1171A>T (p.Thr391Ser)
NM_003500.4(ACOX2):c.1175G>A (p.Gly392Asp)
NM_003500.4(ACOX2):c.1216G>C (p.Glu406Gln)
NM_003500.4(ACOX2):c.1221G>A (p.Met407Ile)
NM_003500.4(ACOX2):c.1225C>T (p.Arg409Cys)
NM_003500.4(ACOX2):c.1226G>A (p.Arg409His) rs746437214
NM_003500.4(ACOX2):c.1327C>T (p.Leu443Phe) rs2108003752
NM_003500.4(ACOX2):c.1435G>A (p.Ala479Thr)
NM_003500.4(ACOX2):c.143C>A (p.Ala48Glu)
NM_003500.4(ACOX2):c.1487C>T (p.Pro496Leu)
NM_003500.4(ACOX2):c.1506del (p.Trp503fs)
NM_003500.4(ACOX2):c.1526G>T (p.Arg509Met)
NM_003500.4(ACOX2):c.1528C>T (p.Leu510Phe) rs752559593
NM_003500.4(ACOX2):c.1568A>C (p.Gln523Pro)
NM_003500.4(ACOX2):c.157G>A (p.Val53Ile)
NM_003500.4(ACOX2):c.1632+6C>T
NM_003500.4(ACOX2):c.1652C>T (p.Thr551Ile)
NM_003500.4(ACOX2):c.1696C>T (p.Pro566Ser)
NM_003500.4(ACOX2):c.1700C>T (p.Ala567Val)
NM_003500.4(ACOX2):c.1719G>C (p.Lys573Asn)
NM_003500.4(ACOX2):c.1721G>A (p.Arg574His)
NM_003500.4(ACOX2):c.1784C>G (p.Ala595Gly)
NM_003500.4(ACOX2):c.1829T>C (p.Leu610Pro)
NM_003500.4(ACOX2):c.1849C>T (p.Arg617Trp)
NM_003500.4(ACOX2):c.1850G>A (p.Arg617Gln)
NM_003500.4(ACOX2):c.1943G>A (p.Arg648His)
NM_003500.4(ACOX2):c.20G>A (p.Arg7Gln)
NM_003500.4(ACOX2):c.226C>A (p.Arg76Ser)
NM_003500.4(ACOX2):c.227G>A (p.Arg76His)
NM_003500.4(ACOX2):c.245G>A (p.Arg82Gln)
NM_003500.4(ACOX2):c.254T>C (p.Phe85Ser)
NM_003500.4(ACOX2):c.263G>A (p.Arg88Gln)
NM_003500.4(ACOX2):c.263G>T (p.Arg88Leu)
NM_003500.4(ACOX2):c.275G>A (p.Arg92Gln)
NM_003500.4(ACOX2):c.277C>T (p.Arg93Cys)
NM_003500.4(ACOX2):c.278G>A (p.Arg93His)
NM_003500.4(ACOX2):c.290T>G (p.Leu97Ter)
NM_003500.4(ACOX2):c.29T>C (p.Leu10Ser)
NM_003500.4(ACOX2):c.317C>T (p.Ala106Val)
NM_003500.4(ACOX2):c.334G>A (p.Gly112Arg)
NM_003500.4(ACOX2):c.340G>A (p.Val114Met)
NM_003500.4(ACOX2):c.34G>A (p.Asp12Asn)
NM_003500.4(ACOX2):c.367G>A (p.Val123Met)
NM_003500.4(ACOX2):c.389G>A (p.Gly130Asp)
NM_003500.4(ACOX2):c.408del (p.Lys137fs)
NM_003500.4(ACOX2):c.425G>T (p.Cys142Phe)
NM_003500.4(ACOX2):c.439A>T (p.Ile147Phe)
NM_003500.4(ACOX2):c.445G>A (p.Ala149Thr)
NM_003500.4(ACOX2):c.475+4A>C
NM_003500.4(ACOX2):c.488A>C (p.Gln163Pro)
NM_003500.4(ACOX2):c.517G>A (p.Ala173Thr)
NM_003500.4(ACOX2):c.551C>T (p.Thr184Met)
NM_003500.4(ACOX2):c.590G>A (p.Arg197Gln)
NM_003500.4(ACOX2):c.603_604inv (p.Ala202Thr)
NM_003500.4(ACOX2):c.631T>C (p.Ser211Pro)
NM_003500.4(ACOX2):c.643C>T (p.Arg215Trp)
NM_003500.4(ACOX2):c.65T>C (p.Ile22Thr)
NM_003500.4(ACOX2):c.710T>C (p.Ile237Thr)
NM_003500.4(ACOX2):c.730A>C (p.Lys244Gln)
NM_003500.4(ACOX2):c.781C>T (p.Arg261Trp) rs200178010
NM_003500.4(ACOX2):c.790A>G (p.Arg264Gly)
NM_003500.4(ACOX2):c.798C>A (p.Asn266Lys)
NM_003500.4(ACOX2):c.836C>A (p.Thr279Asn)
NM_003500.4(ACOX2):c.841G>A (p.Val281Ile)
NM_003500.4(ACOX2):c.875C>T (p.Pro292Leu)
NM_003500.4(ACOX2):c.914T>A (p.Ile305Asn)
NM_003500.4(ACOX2):c.925del (p.Leu309fs)
NM_003500.4(ACOX2):c.929A>G (p.Gln310Arg)
NM_003500.4(ACOX2):c.952C>T (p.Arg318Cys) rs201115263
NM_003500.4(ACOX2):c.953G>A (p.Arg318His) rs147316315
NM_003500.4(ACOX2):c.967C>T (p.Arg323Cys) rs941553281
NM_003500.4(ACOX2):c.968G>A (p.Arg323His)
NM_003500.4(ACOX2):c.968G>T (p.Arg323Leu)
NM_003500.4(ACOX2):c.979C>T (p.Arg327Trp)
NM_003500.4(ACOX2):c.980G>A (p.Arg327Gln)
NM_003500.4(ACOX2):c.986G>A (p.Arg329Gln)
NM_003500.4(ACOX2):c.992+6G>A

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