ClinVar Miner

List of variants in gene PHOX2B reported by Sema4, Sema4

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=) rs190973308 0.00162
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=) rs201892150 0.00145
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772 0.00077
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=) rs17879258 0.00039
NM_003924.4(PHOX2B):c.591C>G (p.Gly197=) rs144414806 0.00036
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949 0.00018
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val) rs768420488 0.00001
NM_003924.4(PHOX2B):c.423A>C (p.Arg141=) rs2153112921
NM_003924.4(PHOX2B):c.42C>T (p.Tyr14=) rs775101470
NM_003924.4(PHOX2B):c.520A>G (p.Lys174Glu) rs1733895906
NM_003924.4(PHOX2B):c.66C>T (p.Asp22=) rs2153113068
NM_003924.4(PHOX2B):c.672G>A (p.Pro224=) rs1348881057
NM_003924.4(PHOX2B):c.688G>C (p.Gly230Arg) rs1733884523
NM_003924.4(PHOX2B):c.795G>T (p.Ala265=) rs1440737466
NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met) rs1733869488
NM_003924.4(PHOX2B):c.933C>T (p.Ser311=) rs2153112725

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