ClinVar Miner

List of variants studied for Congenital central hypoventilation by Invitae

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ClinVar version:
Total variants: 178
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HGVS dbSNP
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.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.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.723_743del (p.Ala254_Ala260del) rs1064792993
NM_003924.3(PHOX2B):c.728C>T (p.Ala243Val) rs1482074468
NM_003924.3(PHOX2B):c.729A>G (p.Ala243=) rs751829128
NM_003924.3(PHOX2B):c.729_749del (p.Ala254_Ala260del) rs772448418
NM_003924.3(PHOX2B):c.735_761del (p.Ala252_Ala260del) rs749694204
NM_003924.3(PHOX2B):c.735_767del (p.Ala250_Ala260del) rs757850760
NM_003924.3(PHOX2B):c.738_776del (p.Ala248_Ala260del) rs757020181
NM_003924.3(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.3(PHOX2B):c.741_761del (p.Ala254_Ala260del) rs749694204
NM_003924.3(PHOX2B):c.745G>A (p.Ala249Thr) rs1276685806
NM_003924.3(PHOX2B):c.747A>C (p.Ala249=) rs1443950997
NM_003924.3(PHOX2B):c.747_773del (p.Ala252_Ala260del) rs778840671
NM_003924.3(PHOX2B):c.749C>G (p.Ala250Gly) rs765803171
NM_003924.3(PHOX2B):c.750G>A (p.Ala250=) rs17882335
NM_003924.3(PHOX2B):c.753_767del (p.Ala256_Ala260del) rs779557320
NM_003924.3(PHOX2B):c.756_776del (p.Ala254_Ala260del) rs17879189
NM_003924.3(PHOX2B):c.759G>A (p.Ala253=) rs1018522821
NM_003924.3(PHOX2B):c.760G>A (p.Ala254Thr) rs766767855
NM_003924.3(PHOX2B):c.762_767AGCGGC[3] (p.Ala259_Ala260dup) rs1157597283
NM_003924.3(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_003924.3(PHOX2B):c.768A>G (p.Ala256=) rs574093401
NM_003924.3(PHOX2B):c.771_773GGC[3] (p.Ala260dup) rs17886470
NM_003924.3(PHOX2B):c.771_779del (p.Ala258_Ala260del) rs764220516
NM_003924.3(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591
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.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>T (p.Tyr78=) rs73810366
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.429+5G>T
NM_003924.4(PHOX2B):c.429+7G>T rs1577560174
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.726A>G (p.Ala242=) rs757355779
NM_003924.4(PHOX2B):c.741C>A (p.Ala247=) rs764470906
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.741_767del (p.Ala252_Ala260del) rs1577558924
NM_003924.4(PHOX2B):c.744G>C (p.Ala248=) rs758533453
NM_003924.4(PHOX2B):c.750_752GGC[5] (p.Ala260dup)
NM_003924.4(PHOX2B):c.756G>A (p.Ala252=) rs1173050990
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724
NM_003924.4(PHOX2B):c.762A>G (p.Ala254=) rs17884724
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)

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