ClinVar Miner

List of variants in gene CP reported as likely pathogenic for Deficiency of ferroxidase

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000096.4(CP):c.1948G>A (p.Gly650Arg) rs776936158 0.00002
NM_000096.4(CP):c.1679G>T (p.Cys560Phe) rs1064797073
NM_000096.4(CP):c.2078-75_2241del
NM_000096.4(CP):c.2756T>C (p.Leu919Pro) rs1135401784
NM_000096.4(CP):c.2879-1G>T rs386134141
NM_000096.4(CP):c.848G>C (p.Trp283Ser) rs386134126

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