ClinVar Miner

List of variants in gene ACO2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001098.3(ACO2):c.231C>T (p.Pro77=) rs150593227 0.00327
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_001098.3(ACO2):c.282C>T (p.Asp94=) rs142651093 0.00044
NM_001098.3(ACO2):c.987C>T (p.Asp329=) rs140823998 0.00031
NM_001098.3(ACO2):c.72A>G (p.Ser24=) rs188233863 0.00023
NM_001098.3(ACO2):c.714C>T (p.Leu238=) rs145011805 0.00019
NM_001098.3(ACO2):c.1545G>A (p.Thr515=) rs113953699 0.00006
NM_001098.3(ACO2):c.1113A>G (p.Glu371=) rs372273291 0.00004
NM_001098.3(ACO2):c.1261G>A (p.Glu421Lys) rs1487444493 0.00001
NM_001098.3(ACO2):c.1005C>G (p.Asp335Glu)
NM_001098.3(ACO2):c.1150A>G (p.Ser384Gly) rs2066537870
NM_001098.3(ACO2):c.1304T>C (p.Ile435Thr)
NM_001098.3(ACO2):c.1422G>C (p.Arg474Ser) rs1569021548
NM_001098.3(ACO2):c.173+4A>G rs2066341612
NM_001098.3(ACO2):c.250C>T (p.Arg84Ter) rs387907389
NM_001098.3(ACO2):c.303G>A (p.Ala101=)
NM_001098.3(ACO2):c.490G>C (p.Gly164Arg) rs2066436333
NM_001098.3(ACO2):c.570C>T (p.Gly190=) rs1601916894
NM_001098.3(ACO2):c.74_82del (p.Val25_Gln28delinsGlu) rs1601901253
NM_001098.3(ACO2):c.839T>C (p.Met280Thr) rs2066485285

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