ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_003924.3(PHOX2B):c.220C>T (p.Gln74Ter) rs1297909281
NM_003924.3(PHOX2B):c.618dup (p.Ser207fs) rs587776626
NM_003924.3(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)
NP_003915.2:p.Ala260(5_9)
PHOX2B, 37-BP DEL, NT722

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