ClinVar Miner

List of variants in gene PHOX2B reported as pathogenic by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val) rs768420488 0.00001
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter) rs73810366
NM_003924.4(PHOX2B):c.421C>G (p.Arg141Gly) rs28939716
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln) rs1733941453
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu) rs1733899167
NM_003924.4(PHOX2B):c.618dup (p.Ser207fs) rs587776626
NM_003924.4(PHOX2B):c.676del (p.Ala226fs)

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