ClinVar Miner

List of variants in gene PHOX2B reported by PreventionGenetics, part of Exact Sciences

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
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.591C>G (p.Gly197=) rs144414806 0.00036
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949 0.00018
NM_003924.4(PHOX2B):c.654C>A (p.Pro218=) rs770437869 0.00006
NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg) rs767873201 0.00002
NM_003924.4(PHOX2B):c.806C>T (p.Pro269Leu) rs1350901284 0.00001
NM_003924.4(PHOX2B):c.241+1G>A rs2153113036
NM_003924.4(PHOX2B):c.304C>T (p.Arg102Cys) rs2153112943
NM_003924.4(PHOX2B):c.382C>T (p.Arg128Trp)
NM_003924.4(PHOX2B):c.419C>G (p.Ala140Gly)
NM_003924.4(PHOX2B):c.657C>A (p.Ser219Arg) rs1194972256
NM_003924.4(PHOX2B):c.66C>A (p.Asp22Glu)
NM_003924.4(PHOX2B):c.684dup (p.Pro229fs)
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157

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