ClinVar Miner

List of variants in gene ACO2 reported as pathogenic for not provided

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.1132C>T (p.Arg378Ter) rs2066512609 0.00001
NM_001098.3(ACO2):c.1390G>T (p.Glu464Ter) rs1601927180 0.00001
NM_001098.3(ACO2):c.172C>T (p.Arg58Ter) rs751460831 0.00001
NM_001098.3(ACO2):c.684+1G>T rs747330606 0.00001
NC_000022.10:g.(?_41865151)_(41865206_?)del
NC_000022.10:g.(?_41895710)_(41895886_?)del
NM_001098.3(ACO2):c.1002T>A (p.Tyr334Ter) rs2146128577
NM_001098.3(ACO2):c.1119G>A (p.Trp373Ter) rs2146130989
NM_001098.3(ACO2):c.1128_1134dup (p.Val379fs) rs2146131000
NM_001098.3(ACO2):c.1136dup (p.Leu381fs)
NM_001098.3(ACO2):c.1239dup (p.Phe414fs)
NM_001098.3(ACO2):c.1356del (p.Ile452fs)
NM_001098.3(ACO2):c.135T>G (p.Tyr45Ter)
NM_001098.3(ACO2):c.1416C>G (p.Tyr472Ter) rs2146136449
NM_001098.3(ACO2):c.1485dup (p.Val496fs)
NM_001098.3(ACO2):c.1507G>T (p.Gly503Ter) rs2146139034
NM_001098.3(ACO2):c.1534_1537del (p.Asp512fs) rs2146139092
NM_001098.3(ACO2):c.1534_1537dup (p.Tyr513Ter) rs2146139087
NM_001098.3(ACO2):c.1559del (p.Lys520fs) rs1252879915
NM_001098.3(ACO2):c.250C>T (p.Arg84Ter) rs387907389
NM_001098.3(ACO2):c.325C>T (p.Gln109Ter)
NM_001098.3(ACO2):c.34C>T (p.Gln12Ter) rs1131691759
NM_001098.3(ACO2):c.397C>T (p.Gln133Ter)
NM_001098.3(ACO2):c.499A>T (p.Lys167Ter) rs2146120226
NM_001098.3(ACO2):c.525+1G>A rs2146120264
NM_001098.3(ACO2):c.665G>A (p.Trp222Ter)
NM_001098.3(ACO2):c.708_723del (p.Ser237fs)
NM_001098.3(ACO2):c.715_716del (p.Ser239fs) rs2066471565
NM_001098.3(ACO2):c.802_817dup (p.Asp273fs)
NM_001098.3(ACO2):c.822dup (p.Ile275fs) rs1188048436
NM_001098.3(ACO2):c.952del (p.Asn317_Leu318insTer) rs2146128464

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