ClinVar Miner

List of variants in gene PHOX2B reported by Baylor Genetics

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949 0.00018
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn) rs559227588 0.00004
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val) rs748614674 0.00003
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val) rs1335294030 0.00002
NM_003924.4(PHOX2B):c.251A>G (p.Lys84Arg) rs1397909726 0.00001
NM_003924.4(PHOX2B):c.275T>C (p.Leu92Pro) rs1477680896 0.00001
NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del) rs1233756366 0.00001
NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr) rs1060501118 0.00001
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val) rs768420488 0.00001
NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser) rs587778607 0.00001
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn) rs762234006 0.00001
NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly) rs1733865595 0.00001
NM_003924.4(PHOX2B):c.157G>T (p.Ala53Ser) rs1733982922
NM_003924.4(PHOX2B):c.241+1G>A rs2153113036
NM_003924.4(PHOX2B):c.292C>T (p.Gln98Ter) rs1733947320
NM_003924.4(PHOX2B):c.373A>C (p.Ile125Leu)
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys) rs1560466246
NM_003924.4(PHOX2B):c.401A>G (p.Lys134Arg) rs1400901317
NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser) rs1162776926
NM_003924.4(PHOX2B):c.499G>A (p.Ala167Thr) rs1338837491
NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly) rs1353983410
NM_003924.4(PHOX2B):c.577G>C (p.Asp193His) rs1577559273
NM_003924.4(PHOX2B):c.611C>A (p.Pro204His)
NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)
NM_003924.4(PHOX2B):c.695C>G (p.Pro232Arg)
NM_003924.4(PHOX2B):c.712A>T (p.Lys238Ter)
NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro)
NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3]) rs752879767
NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu) rs1733870310
NM_003924.4(PHOX2B):c.872T>A (p.Phe291Tyr)
NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr) rs1577558708
NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys) rs1553897738

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