ClinVar Miner

List of variants in gene PHOX2B reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
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.654C>A (p.Pro218=) rs770437869 0.00006
NM_003924.4(PHOX2B):c.531C>T (p.Asp177=) rs746303997 0.00005
NM_003924.4(PHOX2B):c.921C>G (p.Ala307=) rs1045005323 0.00005
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn) rs559227588 0.00004
NM_003924.4(PHOX2B):c.834C>T (p.Gly278=) rs761468808 0.00004
NM_003924.4(PHOX2B):c.315C>T (p.Phe105=) rs763804374 0.00003
NM_003924.4(PHOX2B):c.543C>T (p.Asp181=) rs780690330 0.00003
NM_003924.4(PHOX2B):c.393G>C (p.Leu131=) rs779269711 0.00002
NM_003924.4(PHOX2B):c.411C>T (p.Leu137=) rs749727192 0.00002
NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg) rs759792321 0.00002
NM_003924.4(PHOX2B):c.78G>A (p.Leu26=) rs746854983 0.00002
NM_003924.4(PHOX2B):c.792T>C (p.Ala264=) rs755927299 0.00002
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser) rs1260084723 0.00002
NM_003924.4(PHOX2B):c.905A>G (p.Asn302Ser) rs779068107 0.00002
NM_003924.4(PHOX2B):c.111C>T (p.Ser37=) rs374160638 0.00001
NM_003924.4(PHOX2B):c.135C>T (p.Asn45=) rs878854616 0.00001
NM_003924.4(PHOX2B):c.138G>A (p.Pro46=) rs1486629336 0.00001
NM_003924.4(PHOX2B):c.186G>A (p.Pro62=) rs763699416 0.00001
NM_003924.4(PHOX2B):c.219C>T (p.His73=) rs1188377092 0.00001
NM_003924.4(PHOX2B):c.243T>G (p.Val81=) rs1312296810 0.00001
NM_003924.4(PHOX2B):c.270C>T (p.Gly90=) rs1420633452 0.00001
NM_003924.4(PHOX2B):c.300C>T (p.Arg100=) rs1733946891 0.00001
NM_003924.4(PHOX2B):c.306C>G (p.Arg102=) rs140002346 0.00001
NM_003924.4(PHOX2B):c.309C>G (p.Thr103=) rs199611260 0.00001
NM_003924.4(PHOX2B):c.33C>T (p.Ser11=) rs773982008 0.00001
NM_003924.4(PHOX2B):c.345G>A (p.Arg115=) rs747055965 0.00001
NM_003924.4(PHOX2B):c.369C>G (p.Pro123=) rs1733943582 0.00001
NM_003924.4(PHOX2B):c.39C>T (p.Ala13=) rs748767112 0.00001
NM_003924.4(PHOX2B):c.483A>C (p.Ala161=) rs765027210 0.00001
NM_003924.4(PHOX2B):c.48C>T (p.Ser16=) rs1383504578 0.00001
NM_003924.4(PHOX2B):c.495C>G (p.Ala165=) rs1333598816 0.00001
NM_003924.4(PHOX2B):c.497C>T (p.Ala166Val) rs774521395 0.00001
NM_003924.4(PHOX2B):c.51T>C (p.Cys17=) rs1577561406 0.00001
NM_003924.4(PHOX2B):c.549G>A (p.Glu183=) rs770661130 0.00001
NM_003924.4(PHOX2B):c.651G>T (p.Gly217=) rs777081672 0.00001
NM_003924.4(PHOX2B):c.807T>C (p.Pro269=) rs755371263 0.00001
NM_003924.4(PHOX2B):c.825C>G (p.Pro275=) rs754362364 0.00001
NM_003924.4(PHOX2B):c.831C>G (p.Pro277=) rs773606043 0.00001
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser) rs769663483 0.00001
NM_003924.4(PHOX2B):c.885A>G (p.Leu295=) rs748382088 0.00001
NM_003924.4(PHOX2B):c.924A>G (p.Leu308=) rs1335997009 0.00001
NM_003924.4(PHOX2B):c.927G>A (p.Val309=) rs750728938 0.00001
NM_003924.4(PHOX2B):c.942C>T (p.Phe314=) rs751212535 0.00001
NM_003924.4(PHOX2B):c.114G>A (p.Gln38=) rs766500239
NM_003924.4(PHOX2B):c.120T>C (p.Ser40=) rs756519209
NM_003924.4(PHOX2B):c.132T>C (p.Tyr44=)
NM_003924.4(PHOX2B):c.138G>C (p.Pro46=) rs1486629336
NM_003924.4(PHOX2B):c.138G>T (p.Pro46=) rs1486629336
NM_003924.4(PHOX2B):c.153T>C (p.Phe51=) rs1012348354
NM_003924.4(PHOX2B):c.156G>C (p.Gly52=)
NM_003924.4(PHOX2B):c.159C>T (p.Ala53=)
NM_003924.4(PHOX2B):c.162G>A (p.Thr54=) rs1262122327
NM_003924.4(PHOX2B):c.162G>C (p.Thr54=) rs1262122327
NM_003924.4(PHOX2B):c.165C>A (p.Ser55=) rs762144117
NM_003924.4(PHOX2B):c.165C>T (p.Ser55=) rs762144117
NM_003924.4(PHOX2B):c.171C>T (p.Cys57=)
NM_003924.4(PHOX2B):c.174T>G (p.Pro58=) rs1577561219
NM_003924.4(PHOX2B):c.183G>C (p.Thr61=) rs1733981524
NM_003924.4(PHOX2B):c.183G>T (p.Thr61=) rs1733981524
NM_003924.4(PHOX2B):c.186G>C (p.Pro62=) rs763699416
NM_003924.4(PHOX2B):c.189A>C (p.Gly63=)
NM_003924.4(PHOX2B):c.201G>C (p.Leu67=)
NM_003924.4(PHOX2B):c.204C>A (p.Gly68=) rs1235634555
NM_003924.4(PHOX2B):c.207C>T (p.Thr69=)
NM_003924.4(PHOX2B):c.210C>T (p.Leu70=)
NM_003924.4(PHOX2B):c.213G>A (p.Arg71=)
NM_003924.4(PHOX2B):c.222G>A (p.Gln74=)
NM_003924.4(PHOX2B):c.228T>C (p.Ser76=)
NM_003924.4(PHOX2B):c.231G>A (p.Pro77=) rs376060053
NM_003924.4(PHOX2B):c.231G>C (p.Pro77=)
NM_003924.4(PHOX2B):c.231G>T (p.Pro77=) rs376060053
NM_003924.4(PHOX2B):c.237C>A (p.Ala79=)
NM_003924.4(PHOX2B):c.237C>T (p.Ala79=)
NM_003924.4(PHOX2B):c.242-4C>G rs1733950165
NM_003924.4(PHOX2B):c.242-5T>G
NM_003924.4(PHOX2B):c.246T>G (p.Pro82=) rs968699857
NM_003924.4(PHOX2B):c.249C>T (p.Tyr83=) rs753545181
NM_003924.4(PHOX2B):c.24C>T (p.Tyr8=) rs1577561446
NM_003924.4(PHOX2B):c.252A>G (p.Lys84=)
NM_003924.4(PHOX2B):c.255C>T (p.Leu85=)
NM_003924.4(PHOX2B):c.261G>C (p.Thr87=) rs996060917
NM_003924.4(PHOX2B):c.261G>T (p.Thr87=)
NM_003924.4(PHOX2B):c.306C>T (p.Arg102=) rs140002346
NM_003924.4(PHOX2B):c.309C>T (p.Thr103=)
NM_003924.4(PHOX2B):c.324C>G (p.Ala108=)
NM_003924.4(PHOX2B):c.324C>T (p.Ala108=)
NM_003924.4(PHOX2B):c.339G>A (p.Leu113=)
NM_003924.4(PHOX2B):c.351C>T (p.Phe117=) rs1169134483
NM_003924.4(PHOX2B):c.354G>A (p.Ala118=)
NM_003924.4(PHOX2B):c.360T>G (p.Thr120=) rs1246343669
NM_003924.4(PHOX2B):c.366C>T (p.Tyr122=)
NM_003924.4(PHOX2B):c.369C>T (p.Pro123=) rs1733943582
NM_003924.4(PHOX2B):c.36T>C (p.Ser12=)
NM_003924.4(PHOX2B):c.372C>T (p.Asp124=)
NM_003924.4(PHOX2B):c.375C>T (p.Ile125=)
NM_003924.4(PHOX2B):c.378C>T (p.Tyr126=) rs2153112935
NM_003924.4(PHOX2B):c.381T>C (p.Thr127=) rs772579725
NM_003924.4(PHOX2B):c.393G>A (p.Leu131=) rs779269711
NM_003924.4(PHOX2B):c.405C>A (p.Ile135=)
NM_003924.4(PHOX2B):c.405C>T (p.Ile135=) rs147497096
NM_003924.4(PHOX2B):c.408C>T (p.Asp136=) rs1577560212
NM_003924.4(PHOX2B):c.414A>C (p.Thr138=)
NM_003924.4(PHOX2B):c.414A>G (p.Thr138=)
NM_003924.4(PHOX2B):c.417G>A (p.Glu139=)
NM_003924.4(PHOX2B):c.420G>A (p.Ala140=) rs1577560187
NM_003924.4(PHOX2B):c.420G>C (p.Ala140=)
NM_003924.4(PHOX2B):c.421C>A (p.Arg141=) rs28939716
NM_003924.4(PHOX2B):c.42C>T (p.Tyr14=) rs775101470
NM_003924.4(PHOX2B):c.450C>A (p.Arg150=) rs17881486
NM_003924.4(PHOX2B):c.453C>A (p.Ala151=)
NM_003924.4(PHOX2B):c.453C>T (p.Ala151=) rs1577559389
NM_003924.4(PHOX2B):c.45G>A (p.Glu15=) rs769573717
NM_003924.4(PHOX2B):c.465G>A (p.Lys155=)
NM_003924.4(PHOX2B):c.477A>C (p.Ala159=)
NM_003924.4(PHOX2B):c.480G>A (p.Ala160=) rs752437432
NM_003924.4(PHOX2B):c.480G>C (p.Ala160=) rs752437432
NM_003924.4(PHOX2B):c.480G>T (p.Ala160=)
NM_003924.4(PHOX2B):c.486C>A (p.Ala162=) rs547677836
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=) rs547677836
NM_003924.4(PHOX2B):c.489A>G (p.Ala163=)
NM_003924.4(PHOX2B):c.492G>C (p.Ala164=)
NM_003924.4(PHOX2B):c.495C>T (p.Ala165=) rs1333598816
NM_003924.4(PHOX2B):c.504G>A (p.Lys168=)
NM_003924.4(PHOX2B):c.507C>T (p.Asn169=)
NM_003924.4(PHOX2B):c.510C>T (p.Gly170=) rs2153112808
NM_003924.4(PHOX2B):c.513C>T (p.Ser171=)
NM_003924.4(PHOX2B):c.516G>C (p.Ser172=)
NM_003924.4(PHOX2B):c.546C>T (p.Asp182=)
NM_003924.4(PHOX2B):c.558G>A (p.Glu186=) rs1428966376
NM_003924.4(PHOX2B):c.561C>A (p.Ala187=)
NM_003924.4(PHOX2B):c.564G>A (p.Lys188=)
NM_003924.4(PHOX2B):c.570T>C (p.Thr190=)
NM_003924.4(PHOX2B):c.579C>T (p.Asp193=)
NM_003924.4(PHOX2B):c.57T>C (p.Ala19=)
NM_003924.4(PHOX2B):c.591C>T (p.Gly197=)
NM_003924.4(PHOX2B):c.600C>G (p.Pro200=) rs2153112798
NM_003924.4(PHOX2B):c.600C>T (p.Pro200=)
NM_003924.4(PHOX2B):c.606C>T (p.Pro202=)
NM_003924.4(PHOX2B):c.612C>T (p.Pro204=)
NM_003924.4(PHOX2B):c.615C>T (p.Thr205=)
NM_003924.4(PHOX2B):c.618C>T (p.Pro206=)
NM_003924.4(PHOX2B):c.621C>T (p.Ser207=)
NM_003924.4(PHOX2B):c.624C>T (p.Cys208=) rs1060504149
NM_003924.4(PHOX2B):c.627G>T (p.Gly209=)
NM_003924.4(PHOX2B):c.630G>T (p.Ala210=) rs370087972
NM_003924.4(PHOX2B):c.632A>G (p.Asn211Ser) rs1733890628
NM_003924.4(PHOX2B):c.633T>C (p.Asn211=)
NM_003924.4(PHOX2B):c.636A>G (p.Gly212=)
NM_003924.4(PHOX2B):c.639C>A (p.Gly213=) rs17879258
NM_003924.4(PHOX2B):c.639C>T (p.Gly213=) rs17879258
NM_003924.4(PHOX2B):c.639CGG[3] (p.Gly217del) rs760638643
NM_003924.4(PHOX2B):c.642C>A (p.Gly214=)
NM_003924.4(PHOX2B):c.645C>A (p.Gly215=)
NM_003924.4(PHOX2B):c.645C>T (p.Gly215=) rs1577559183
NM_003924.4(PHOX2B):c.648C>T (p.Gly216=) rs1010286039
NM_003924.4(PHOX2B):c.654C>T (p.Pro218=) rs770437869
NM_003924.4(PHOX2B):c.657C>T (p.Ser219=)
NM_003924.4(PHOX2B):c.660G>A (p.Pro220=) rs1435630597
NM_003924.4(PHOX2B):c.663T>C (p.Ala221=)
NM_003924.4(PHOX2B):c.669T>G (p.Ala223=) rs1553897837
NM_003924.4(PHOX2B):c.672G>A (p.Pro224=) rs1348881057
NM_003924.4(PHOX2B):c.672G>T (p.Pro224=)
NM_003924.4(PHOX2B):c.675G>A (p.Gly225=) rs1577559129
NM_003924.4(PHOX2B):c.678G>A (p.Ala226=)
NM_003924.4(PHOX2B):c.678G>C (p.Ala226=) rs1577559118
NM_003924.4(PHOX2B):c.678G>T (p.Ala226=) rs1577559118
NM_003924.4(PHOX2B):c.681G>A (p.Ala227=) rs878854617
NM_003924.4(PHOX2B):c.687C>G (p.Pro229=) rs1391920139
NM_003924.4(PHOX2B):c.690G>A (p.Gly230=) rs1553897816
NM_003924.4(PHOX2B):c.693C>G (p.Gly231=)
NM_003924.4(PHOX2B):c.693C>T (p.Gly231=)
NM_003924.4(PHOX2B):c.696G>C (p.Pro232=)
NM_003924.4(PHOX2B):c.6T>C (p.Tyr2=)
NM_003924.4(PHOX2B):c.702C>G (p.Gly234=) rs1293065990
NM_003924.4(PHOX2B):c.702C>T (p.Gly234=)
NM_003924.4(PHOX2B):c.708C>G (p.Pro236=) rs949110097
NM_003924.4(PHOX2B):c.708C>T (p.Pro236=) rs949110097
NM_003924.4(PHOX2B):c.711C>G (p.Gly237=)
NM_003924.4(PHOX2B):c.717C>T (p.Gly239=)
NM_003924.4(PHOX2B):c.720C>T (p.Gly240=) rs2153112774
NM_003924.4(PHOX2B):c.723A>C (p.Ala241=)
NM_003924.4(PHOX2B):c.723A>T (p.Ala241=)
NM_003924.4(PHOX2B):c.72G>A (p.Ser24=) rs910430385
NM_003924.4(PHOX2B):c.76C>T (p.Leu26=)
NM_003924.4(PHOX2B):c.787C>T (p.Leu263=) rs749254001
NM_003924.4(PHOX2B):c.789G>C (p.Leu263=)
NM_003924.4(PHOX2B):c.795G>C (p.Ala265=) rs1440737466
NM_003924.4(PHOX2B):c.795G>T (p.Ala265=) rs1440737466
NM_003924.4(PHOX2B):c.801G>A (p.Gly267=) rs778114366
NM_003924.4(PHOX2B):c.825C>T (p.Pro275=)
NM_003924.4(PHOX2B):c.828C>A (p.Gly276=)
NM_003924.4(PHOX2B):c.828C>T (p.Gly276=)
NM_003924.4(PHOX2B):c.831C>T (p.Pro277=)
NM_003924.4(PHOX2B):c.843C>T (p.Thr281=) rs2153112745
NM_003924.4(PHOX2B):c.849C>T (p.Ile283=)
NM_003924.4(PHOX2B):c.84A>G (p.Ser28=) rs2153113066
NM_003924.4(PHOX2B):c.858G>A (p.Ser286=) rs1475326335
NM_003924.4(PHOX2B):c.858G>T (p.Ser286=)
NM_003924.4(PHOX2B):c.861T>C (p.Leu287=)
NM_003924.4(PHOX2B):c.867T>C (p.Gly289=)
NM_003924.4(PHOX2B):c.870C>T (p.Pro290=) rs17885864
NM_003924.4(PHOX2B):c.876C>T (p.Ala292=)
NM_003924.4(PHOX2B):c.87C>G (p.Ala29=)
NM_003924.4(PHOX2B):c.87C>T (p.Ala29=)
NM_003924.4(PHOX2B):c.882C>T (p.Val294=)
NM_003924.4(PHOX2B):c.888T>C (p.Ser296=)
NM_003924.4(PHOX2B):c.891G>T (p.Ser297=)
NM_003924.4(PHOX2B):c.894C>T (p.Leu298=)
NM_003924.4(PHOX2B):c.903C>G (p.Pro301=)
NM_003924.4(PHOX2B):c.906C>T (p.Asn302=)
NM_003924.4(PHOX2B):c.909T>C (p.Gly303=)
NM_003924.4(PHOX2B):c.918C>A (p.Ala306=) rs753912150
NM_003924.4(PHOX2B):c.922T>C (p.Leu308=)
NM_003924.4(PHOX2B):c.99C>T (p.Phe33=) rs779251110

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