ClinVar Miner

List of variants in gene PHOX2B studied for Congenital central hypoventilation

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 199
Download table as spreadsheet
HGVS dbSNP
NC_000004.12:g.41748769G>A
NM_003924.3(PHOX2B):c.*1126C>G rs118046131
NM_003924.3(PHOX2B):c.*1156C>A rs560413438
NM_003924.3(PHOX2B):c.*1269A>G rs886059412
NM_003924.3(PHOX2B):c.*1310G>T rs180795407
NM_003924.3(PHOX2B):c.*1347A>G rs62412180
NM_003924.3(PHOX2B):c.*1364G>A rs6826373
NM_003924.3(PHOX2B):c.*1381C>T rs59260453
NM_003924.3(PHOX2B):c.*1387C>T rs11723860
NM_003924.3(PHOX2B):c.*1401C>G rs781647693
NM_003924.3(PHOX2B):c.*1486T>C rs530550940
NM_003924.3(PHOX2B):c.*161G>A rs114290493
NM_003924.3(PHOX2B):c.*1627G>A rs886059411
NM_003924.3(PHOX2B):c.*1644A>T rs886059410
NM_003924.3(PHOX2B):c.*1662A>T rs1063611
NM_003924.3(PHOX2B):c.*1701A>G rs886059409
NM_003924.3(PHOX2B):c.*18G>A rs776498322
NM_003924.3(PHOX2B):c.*194C>T rs186778106
NM_003924.3(PHOX2B):c.*19C>A rs770841700
NM_003924.3(PHOX2B):c.*24_*32delGCGGCGGCG rs763380864
NM_003924.3(PHOX2B):c.*30_*32dupGCG rs763380864
NM_003924.3(PHOX2B):c.*549dup rs201654270
NM_003924.3(PHOX2B):c.*550G>A rs577950819
NM_003924.3(PHOX2B):c.*58G>C rs886059413
NM_003924.3(PHOX2B):c.*600T>G rs73139116
NM_003924.3(PHOX2B):c.*60G>A rs558416040
NM_003924.3(PHOX2B):c.*638G>C rs544491872
NM_003924.3(PHOX2B):c.*674dup rs397840867
NM_003924.3(PHOX2B):c.*693C>T rs535962589
NM_003924.3(PHOX2B):c.*737C>T rs745503233
NM_003924.3(PHOX2B):c.*80G>A rs75913938
NM_003924.3(PHOX2B):c.-195G>A rs775569375
NM_003924.3(PHOX2B):c.-210C>A rs886059414
NM_003924.3(PHOX2B):c.-265G>A rs886059415
NM_003924.3(PHOX2B):c.11T>G (p.Met4Arg) rs1553898240
NM_003924.3(PHOX2B):c.120T>C (p.Ser40=) rs756519209
NM_003924.3(PHOX2B):c.135C>T (p.Asn45=) rs878854616
NM_003924.3(PHOX2B):c.136C>T (p.Pro46Ser) rs1553898221
NM_003924.3(PHOX2B):c.138G>A (p.Pro46=) rs1486629336
NM_003924.3(PHOX2B):c.146C>A (p.Thr49Asn) rs559227588
NM_003924.3(PHOX2B):c.165C>T (p.Ser55=) rs762144117
NM_003924.3(PHOX2B):c.170G>A (p.Cys57Tyr) rs1553898212
NM_003924.3(PHOX2B):c.181A>G (p.Thr61Ala) rs1273459140
NM_003924.3(PHOX2B):c.186G>A (p.Pro62=) rs763699416
NM_003924.3(PHOX2B):c.186G>T (p.Pro62=) rs763699416
NM_003924.3(PHOX2B):c.220C>T (p.Gln74Ter) rs1297909281
NM_003924.3(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949
NM_003924.3(PHOX2B):c.238G>T (p.Ala80Ser) rs550472167
NM_003924.3(PHOX2B):c.241+6G>T rs776614949
NM_003924.3(PHOX2B):c.241+9C>T rs1553898201
NM_003924.3(PHOX2B):c.242-5_242-2dup rs1553898065
NM_003924.3(PHOX2B):c.242-9A>G rs1283706591
NM_003924.3(PHOX2B):c.264C>G (p.Asp88Glu) rs1560466325
NM_003924.3(PHOX2B):c.288C>G (p.Arg96=) rs201892150
NM_003924.3(PHOX2B):c.290A>C (p.Lys97Thr) rs1060501123
NM_003924.3(PHOX2B):c.299G>T (p.Arg100Leu) rs104893855
NM_003924.3(PHOX2B):c.302T>C (p.Ile101Thr) rs1560466295
NM_003924.3(PHOX2B):c.306C>G (p.Arg102=) rs140002346
NM_003924.3(PHOX2B):c.306C>T (p.Arg102=) rs140002346
NM_003924.3(PHOX2B):c.309C>G (p.Thr103=) rs199611260
NM_003924.3(PHOX2B):c.323C>T (p.Ala108Val) rs956551152
NM_003924.3(PHOX2B):c.335A>T (p.Glu112Val) rs1553898048
NM_003924.3(PHOX2B):c.33C>T (p.Ser11=) rs773982008
NM_003924.3(PHOX2B):c.373A>G (p.Ile125Val) rs560843362
NM_003924.3(PHOX2B):c.385G>A (p.Glu129Lys) rs1560466246
NM_003924.3(PHOX2B):c.391C>G (p.Leu131Val) rs748614674
NM_003924.3(PHOX2B):c.393G>C (p.Leu131=) rs779269711
NM_003924.3(PHOX2B):c.39C>T (p.Ala13=) rs748767112
NM_003924.3(PHOX2B):c.403A>G (p.Ile135Val) rs1577560221
NM_003924.3(PHOX2B):c.409C>T (p.Leu137Phe) rs1577560208
NM_003924.3(PHOX2B):c.429+8C>A rs779822865
NM_003924.3(PHOX2B):c.429+9G>T rs543317710
NM_003924.3(PHOX2B):c.480G>C (p.Ala160=) rs752437432
NM_003924.3(PHOX2B):c.486C>A (p.Ala162=) rs547677836
NM_003924.3(PHOX2B):c.486C>T (p.Ala162=) rs547677836
NM_003924.3(PHOX2B):c.487G>A (p.Ala163Thr) rs767837376
NM_003924.3(PHOX2B):c.487G>T (p.Ala163Ser) rs767837376
NM_003924.3(PHOX2B):c.495C>T (p.Ala165=) rs1333598816
NM_003924.3(PHOX2B):c.497C>T (p.Ala166Val) rs774521395
NM_003924.3(PHOX2B):c.515C>T (p.Ser172Leu) rs1560465736
NM_003924.3(PHOX2B):c.524A>T (p.Lys175Met) rs1060501119
NM_003924.3(PHOX2B):c.532T>A (p.Ser178Thr) rs1577559313
NM_003924.3(PHOX2B):c.56C>G (p.Ala19Gly) rs1353983410
NM_003924.3(PHOX2B):c.591C>G (p.Gly197=) rs144414806
NM_003924.3(PHOX2B):c.603T>A (p.Asn201Lys) rs1553897857
NM_003924.3(PHOX2B):c.608A>C (p.Asn203Thr) rs778887680
NM_003924.3(PHOX2B):c.618dup (p.Ser207fs) rs587776626
NM_003924.3(PHOX2B):c.61A>C (p.Met21Leu) rs780786684
NM_003924.3(PHOX2B):c.624C>T (p.Cys208=) rs1060504149
NM_003924.3(PHOX2B):c.630G>T (p.Ala210=) rs370087972
NM_003924.3(PHOX2B):c.633T>G (p.Asn211Lys) rs1060501120
NM_003924.3(PHOX2B):c.636_641dup (p.Gly216_Gly217dup) rs1553897847
NM_003924.3(PHOX2B):c.639C>G (p.Gly213=) rs17879258
NM_003924.3(PHOX2B):c.639C>T (p.Gly213=) rs17879258
NM_003924.3(PHOX2B):c.640G>T (p.Gly214Cys) rs776131193
NM_003924.3(PHOX2B):c.642C>T (p.Gly214=) rs190973308
NM_003924.3(PHOX2B):c.648_650dupCGG rs760638643
NM_003924.3(PHOX2B):c.654C>A (p.Pro218=) rs770437869
NM_003924.3(PHOX2B):c.655A>G (p.Ser219Gly) rs1560465666
NM_003924.3(PHOX2B):c.661G>A (p.Ala221Thr) rs746684161
NM_003924.3(PHOX2B):c.665G>C (p.Gly222Ala) rs771563787
NM_003924.3(PHOX2B):c.676G>C (p.Ala226Pro) rs936469212
NM_003924.3(PHOX2B):c.679_680delinsTT (p.Ala227Leu) rs1577559108
NM_003924.3(PHOX2B):c.680C>G (p.Ala227Gly) rs779913205
NM_003924.3(PHOX2B):c.683G>T (p.Gly228Val) rs1335294030
NM_003924.3(PHOX2B):c.687C>G (p.Pro229=) rs1391920139
NM_003924.3(PHOX2B):c.694C>A (p.Pro232Thr) rs1433654836
NM_003924.3(PHOX2B):c.70T>C (p.Ser24Pro) rs200971068
NM_003924.3(PHOX2B):c.714G>A (p.Lys238=) rs1553897810
NM_003924.3(PHOX2B):c.714G>T (p.Lys238Asn) rs1553897810
NM_003924.3(PHOX2B):c.716G>A (p.Gly239Asp) rs1577559052
NM_003924.3(PHOX2B):c.718G>A (p.Gly240Ser) rs1183113572
NM_003924.3(PHOX2B):c.719G>A (p.Gly240Asp) rs917558720
NM_003924.3(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157
NM_003924.3(PHOX2B):c.779C>T (p.Ala260Val) rs1060501125
NM_003924.3(PHOX2B):c.785G>T (p.Gly262Val) rs768420488
NM_003924.3(PHOX2B):c.793G>A (p.Ala265Thr) rs1010753155
NM_003924.3(PHOX2B):c.796G>T (p.Ala266Ser) rs1260084723
NM_003924.3(PHOX2B):c.797C>T (p.Ala266Val) rs745709595
NM_003924.3(PHOX2B):c.806C>T (p.Pro269Leu) rs1350901284
NM_003924.3(PHOX2B):c.807T>C (p.Pro269=) rs755371263
NM_003924.3(PHOX2B):c.808G>A (p.Gly270Arg) rs1553897753
NM_003924.3(PHOX2B):c.809G>T (p.Gly270Val) rs1577558821
NM_003924.3(PHOX2B):c.814G>A (p.Gly272Ser) rs1232625512
NM_003924.3(PHOX2B):c.815G>T (p.Gly272Val) rs1355806826
NM_003924.3(PHOX2B):c.826G>A (p.Gly276Ser) rs587778607
NM_003924.3(PHOX2B):c.826_831GGCCCC[3] (p.276_277GP[3]) rs752879767
NM_003924.3(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772
NM_003924.3(PHOX2B):c.833G>T (p.Gly278Val) rs1577558795
NM_003924.3(PHOX2B):c.885A>G (p.Leu295=) rs748382088
NM_003924.3(PHOX2B):c.88T>G (p.Tyr30Asp) rs1060501122
NM_003924.3(PHOX2B):c.904A>T (p.Asn302Tyr) rs1577558708
NM_003924.3(PHOX2B):c.905A>G (p.Asn302Ser) rs779068107
NM_003924.3(PHOX2B):c.920C>T (p.Ala307Val) rs1420729662
NM_003924.3(PHOX2B):c.925G>C (p.Val309Leu) rs756644504
NM_003924.3(PHOX2B):c.929A>G (p.Lys310Arg) rs767873201
NM_003924.3(PHOX2B):c.932G>A (p.Ser311Asn) rs762234006
NM_003924.3(PHOX2B):c.942C>T (p.Phe314=) rs751212535
NM_003924.4(PHOX2B):c.*1334G>C
NM_003924.4(PHOX2B):c.*1345G>T
NM_003924.4(PHOX2B):c.*1582T>C
NM_003924.4(PHOX2B):c.*161G>C
NM_003924.4(PHOX2B):c.*214A>G
NM_003924.4(PHOX2B):c.*278T>A
NM_003924.4(PHOX2B):c.*301C>G
NM_003924.4(PHOX2B):c.*680C>G
NM_003924.4(PHOX2B):c.*789G>A
NM_003924.4(PHOX2B):c.*838A>G
NM_003924.4(PHOX2B):c.-105G>A
NM_003924.4(PHOX2B):c.158C>T (p.Ala53Val)
NM_003924.4(PHOX2B):c.167G>T (p.Gly56Val)
NM_003924.4(PHOX2B):c.208C>T (p.Leu70Phe)
NM_003924.4(PHOX2B):c.231G>A (p.Pro77=) rs376060053
NM_003924.4(PHOX2B):c.231G>T (p.Pro77=) rs376060053
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)
NM_003924.4(PHOX2B):c.315C>T (p.Phe105=) rs763804374
NM_003924.4(PHOX2B):c.319A>G (p.Ser107Gly)
NM_003924.4(PHOX2B):c.334G>A (p.Glu112Lys)
NM_003924.4(PHOX2B):c.344G>A (p.Arg115Lys)
NM_003924.4(PHOX2B):c.345G>A (p.Arg115=) rs747055965
NM_003924.4(PHOX2B):c.408C>T (p.Asp136=) rs1577560212
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)
NM_003924.4(PHOX2B):c.429+5G>T
NM_003924.4(PHOX2B):c.429+7G>T rs1577560174
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486
NM_003924.4(PHOX2B):c.48C>T (p.Ser16=) rs1383504578
NM_003924.4(PHOX2B):c.497C>A (p.Ala166Glu)
NM_003924.4(PHOX2B):c.515C>G (p.Ser172Trp)
NM_003924.4(PHOX2B):c.531C>T (p.Asp177=) rs746303997
NM_003924.4(PHOX2B):c.543C>T (p.Asp181=) rs780690330
NM_003924.4(PHOX2B):c.550A>G (p.Ser184Gly)
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216
NM_003924.4(PHOX2B):c.618del (p.Ser207fs) rs587776626
NM_003924.4(PHOX2B):c.671C>T (p.Pro224Leu)
NM_003924.4(PHOX2B):c.679G>A (p.Ala227Thr)
NM_003924.4(PHOX2B):c.709G>C (p.Gly237Arg) rs1256766962
NM_003924.4(PHOX2B):c.713A>G (p.Lys238Arg)
NM_003924.4(PHOX2B):c.718G>T (p.Gly240Cys)
NM_003924.4(PHOX2B):c.778G>A (p.Ala260Thr)
NM_003924.4(PHOX2B):c.782G>A (p.Gly261Glu)
NM_003924.4(PHOX2B):c.791C>G (p.Ala264Gly) rs779924196
NM_003924.4(PHOX2B):c.803G>A (p.Gly268Asp)
NM_003924.4(PHOX2B):c.803G>T (p.Gly268Val)
NM_003924.4(PHOX2B):c.808G>C (p.Gly270Arg)
NM_003924.4(PHOX2B):c.811C>T (p.Gln271Ter)
NM_003924.4(PHOX2B):c.831C>G (p.Pro277=) rs773606043
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)
NM_003924.4(PHOX2B):c.838A>G (p.Ile280Val)
NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met)
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864
NM_003924.4(PHOX2B):c.87C>A (p.Ala29=) rs1336670718
NM_003924.4(PHOX2B):c.921C>G (p.Ala307=) rs1045005323
NM_003924.4(PHOX2B):c.925G>A (p.Val309Met)
NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu)
NP_003915.2:p.Ala260(5_9)
PHOX2B, 37-BP DEL, NT722

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.