ClinVar Miner

List of variants in gene ACO2, POLR3H studied for Inborn genetic diseases

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys) rs115203053 0.00100
NM_001098.3(ACO2):c.1924C>T (p.Pro642Ser) rs556526295 0.00004
NM_001018050.4(POLR3H):c.*1256C>A
NM_001098.3(ACO2):c.2105_2106del (p.Gln702fs) rs1555890974

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