ClinVar Miner

List of variants in gene HAAO reported by Embryology Laboratory, Victor Chang Cardiac Research Institute

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln) rs1363954556 0.00001
NM_012205.3(HAAO):c.483dup (p.Asp162Ter) rs527656756 0.00001
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_012205.3(HAAO):c.141C>A (p.His47Gln) rs746702852
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp) rs1672152382
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) rs1135401743

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