ClinVar Miner

List of variants in gene PHOX2B reported as likely pathogenic for Congenital central hypoventilation

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys) rs1560466246
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg) rs2153112821
NM_003924.4(PHOX2B):c.691_698del (p.Gly231fs) rs2153112779

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