ClinVar Miner

List of variants in gene PHOX2B reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu) rs964285984 0.00002
NM_003924.4(PHOX2B):c.679G>T (p.Ala227Ser) rs778799670 0.00002
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val) rs1335294030 0.00002
NM_003924.4(PHOX2B):c.692G>A (p.Gly231Asp) rs1044995380 0.00002
NM_003924.4(PHOX2B):c.719G>A (p.Gly240Asp) rs917558720 0.00002
NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg) rs767873201 0.00002
NM_003924.4(PHOX2B):c.137C>A (p.Pro46Gln) rs1381435898 0.00001
NM_003924.4(PHOX2B):c.166G>A (p.Gly56Ser) rs1194861348 0.00001
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.279C>G (p.Asn93Lys) rs1459081022 0.00001
NM_003924.4(PHOX2B):c.29A>G (p.Asn10Ser) rs1255325771 0.00001
NM_003924.4(PHOX2B):c.373A>G (p.Ile125Val) rs560843362 0.00001
NM_003924.4(PHOX2B):c.429+4C>T rs1173248729 0.00001
NM_003924.4(PHOX2B):c.508G>C (p.Gly170Arg) rs775931264 0.00001
NM_003924.4(PHOX2B):c.52A>G (p.Met18Val) rs968453180 0.00001
NM_003924.4(PHOX2B):c.539G>C (p.Arg180Thr) rs1395378700 0.00001
NM_003924.4(PHOX2B):c.560C>A (p.Ala187Asp) rs1191400815 0.00001
NM_003924.4(PHOX2B):c.59G>C (p.Gly20Ala) rs587778605 0.00001
NM_003924.4(PHOX2B):c.602A>G (p.Asn201Ser) rs1018470617 0.00001
NM_003924.4(PHOX2B):c.614C>A (p.Thr205Asn) rs1228610109 0.00001
NM_003924.4(PHOX2B):c.637G>A (p.Gly213Ser) rs762119056 0.00001
NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del) rs1233756366 0.00001
NM_003924.4(PHOX2B):c.661G>A (p.Ala221Thr) rs746684161 0.00001
NM_003924.4(PHOX2B):c.665G>C (p.Gly222Ala) rs771563787 0.00001
NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr) rs1060501118 0.00001
NM_003924.4(PHOX2B):c.680C>G (p.Ala227Gly) rs779913205 0.00001
NM_003924.4(PHOX2B):c.709G>C (p.Gly237Arg) rs1256766962 0.00001
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val) rs768420488 0.00001
NM_003924.4(PHOX2B):c.791C>G (p.Ala264Gly) rs779924196 0.00001
NM_003924.4(PHOX2B):c.793G>A (p.Ala265Thr) rs1010753155 0.00001
NM_003924.4(PHOX2B):c.797C>T (p.Ala266Val) rs745709595 0.00001
NM_003924.4(PHOX2B):c.806C>T (p.Pro269Leu) rs1350901284 0.00001
NM_003924.4(PHOX2B):c.814G>A (p.Gly272Ser) rs1232625512 0.00001
NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser) rs587778607 0.00001
NM_003924.4(PHOX2B):c.89A>T (p.Tyr30Phe) rs1449660830 0.00001
NM_003924.4(PHOX2B):c.907G>C (p.Gly303Arg) rs1324644005 0.00001
NM_003924.4(PHOX2B):c.917C>A (p.Ala306Asp) rs1352110516 0.00001
NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly) rs1733865595 0.00001
NM_003924.4(PHOX2B):c.119G>C (p.Ser40Thr)
NM_003924.4(PHOX2B):c.121G>A (p.Gly41Ser)
NM_003924.4(PHOX2B):c.141A>G (p.Ile47Met) rs1577561264
NM_003924.4(PHOX2B):c.151T>C (p.Phe51Leu)
NM_003924.4(PHOX2B):c.161C>G (p.Thr54Arg)
NM_003924.4(PHOX2B):c.167G>T (p.Gly56Val) rs1733982125
NM_003924.4(PHOX2B):c.182C>T (p.Thr61Met)
NM_003924.4(PHOX2B):c.184C>A (p.Pro62Thr)
NM_003924.4(PHOX2B):c.184C>G (p.Pro62Ala) rs1458869707
NM_003924.4(PHOX2B):c.188G>T (p.Gly63Val) rs2153113046
NM_003924.4(PHOX2B):c.193T>A (p.Cys65Ser) rs1733981070
NM_003924.4(PHOX2B):c.1A>G (p.Met1Val)
NM_003924.4(PHOX2B):c.214G>A (p.Asp72Asn) rs1733980369
NM_003924.4(PHOX2B):c.216C>G (p.Asp72Glu) rs1733980273
NM_003924.4(PHOX2B):c.218A>G (p.His73Arg)
NM_003924.4(PHOX2B):c.222G>T (p.Gln74His) rs1577561176
NM_003924.4(PHOX2B):c.224G>A (p.Ser75Asn)
NM_003924.4(PHOX2B):c.22T>C (p.Tyr8His)
NM_003924.4(PHOX2B):c.230C>G (p.Pro77Arg)
NM_003924.4(PHOX2B):c.235G>C (p.Ala79Pro)
NM_003924.4(PHOX2B):c.236C>T (p.Ala79Val)
NM_003924.4(PHOX2B):c.23A>G (p.Tyr8Cys)
NM_003924.4(PHOX2B):c.241+5G>A rs1733979107
NM_003924.4(PHOX2B):c.253C>T (p.Leu85Phe) rs766200980
NM_003924.4(PHOX2B):c.256T>A (p.Phe86Ile) rs1733949305
NM_003924.4(PHOX2B):c.259A>C (p.Thr87Pro)
NM_003924.4(PHOX2B):c.262G>C (p.Asp88His) rs1402111533
NM_003924.4(PHOX2B):c.265C>T (p.His89Tyr) rs755664325
NM_003924.4(PHOX2B):c.266A>T (p.His89Leu)
NM_003924.4(PHOX2B):c.269G>A (p.Gly90Asp)
NM_003924.4(PHOX2B):c.26T>C (p.Leu9Pro)
NM_003924.4(PHOX2B):c.275T>A (p.Leu92His)
NM_003924.4(PHOX2B):c.286C>G (p.Arg96Gly) rs1450088667
NM_003924.4(PHOX2B):c.293A>G (p.Gln98Arg) rs1577560359
NM_003924.4(PHOX2B):c.301A>G (p.Ile101Val)
NM_003924.4(PHOX2B):c.302T>C (p.Ile101Thr) rs1560466295
NM_003924.4(PHOX2B):c.304C>T (p.Arg102Cys) rs2153112943
NM_003924.4(PHOX2B):c.305G>T (p.Arg102Leu)
NM_003924.4(PHOX2B):c.341A>C (p.Glu114Ala) rs1733945578
NM_003924.4(PHOX2B):c.344G>A (p.Arg115Lys) rs1347766910
NM_003924.4(PHOX2B):c.344G>C (p.Arg115Thr) rs1347766910
NM_003924.4(PHOX2B):c.346G>A (p.Val116Ile)
NM_003924.4(PHOX2B):c.34T>C (p.Ser12Pro)
NM_003924.4(PHOX2B):c.360_362del (p.His121del) rs2153112938
NM_003924.4(PHOX2B):c.380C>A (p.Thr127Asn) rs2153112934
NM_003924.4(PHOX2B):c.380C>G (p.Thr127Ser)
NM_003924.4(PHOX2B):c.398T>A (p.Leu133Gln) rs1553898022
NM_003924.4(PHOX2B):c.3G>A (p.Met1Ile)
NM_003924.4(PHOX2B):c.400A>C (p.Lys134Gln)
NM_003924.4(PHOX2B):c.401A>G (p.Lys134Arg) rs1400901317
NM_003924.4(PHOX2B):c.417G>C (p.Glu139Asp) rs1577560190
NM_003924.4(PHOX2B):c.429+4C>A rs1173248729
NM_003924.4(PHOX2B):c.430-7G>A
NM_003924.4(PHOX2B):c.432_433delinsTC (p.Trp145Arg)
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg) rs2153112821
NM_003924.4(PHOX2B):c.452C>T (p.Ala151Val)
NM_003924.4(PHOX2B):c.469G>C (p.Glu157Gln)
NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser) rs1162776926
NM_003924.4(PHOX2B):c.479C>G (p.Ala160Gly) rs1577559372
NM_003924.4(PHOX2B):c.479C>T (p.Ala160Val) rs1577559372
NM_003924.4(PHOX2B):c.47C>A (p.Ser16Tyr)
NM_003924.4(PHOX2B):c.482C>T (p.Ala161Val)
NM_003924.4(PHOX2B):c.486_497dup (p.Ala164_Ala167dup) rs1733897154
NM_003924.4(PHOX2B):c.487G>T (p.Ala163Ser) rs767837376
NM_003924.4(PHOX2B):c.491C>G (p.Ala164Gly)
NM_003924.4(PHOX2B):c.496G>A (p.Ala166Thr)
NM_003924.4(PHOX2B):c.500C>T (p.Ala167Val)
NM_003924.4(PHOX2B):c.507C>A (p.Asn169Lys) rs2153112810
NM_003924.4(PHOX2B):c.508G>A (p.Gly170Ser) rs775931264
NM_003924.4(PHOX2B):c.508G>T (p.Gly170Cys) rs775931264
NM_003924.4(PHOX2B):c.509G>T (p.Gly170Val)
NM_003924.4(PHOX2B):c.50G>A (p.Cys17Tyr)
NM_003924.4(PHOX2B):c.511T>C (p.Ser171Pro)
NM_003924.4(PHOX2B):c.515C>T (p.Ser172Leu) rs1560465736
NM_003924.4(PHOX2B):c.517G>A (p.Gly173Ser)
NM_003924.4(PHOX2B):c.524A>G (p.Lys175Arg) rs1060501119
NM_003924.4(PHOX2B):c.524A>T (p.Lys175Met) rs1060501119
NM_003924.4(PHOX2B):c.527C>T (p.Ser176Phe)
NM_003924.4(PHOX2B):c.533C>T (p.Ser178Phe) rs2153112806
NM_003924.4(PHOX2B):c.544G>A (p.Asp182Asn) rs1462979811
NM_003924.4(PHOX2B):c.547G>A (p.Glu183Lys)
NM_003924.4(PHOX2B):c.54G>A (p.Met18Ile) rs2153113073
NM_003924.4(PHOX2B):c.550A>G (p.Ser184Gly) rs1733894415
NM_003924.4(PHOX2B):c.556G>A (p.Glu186Lys) rs1560465720
NM_003924.4(PHOX2B):c.568A>T (p.Thr190Ser)
NM_003924.4(PHOX2B):c.56C>A (p.Ala19Asp)
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.579C>G (p.Asp193Glu) rs1733892452
NM_003924.4(PHOX2B):c.584C>A (p.Thr195Asn)
NM_003924.4(PHOX2B):c.586G>A (p.Gly196Arg)
NM_003924.4(PHOX2B):c.587G>A (p.Gly196Glu)
NM_003924.4(PHOX2B):c.590G>A (p.Gly197Asp) rs104893856
NM_003924.4(PHOX2B):c.590G>T (p.Gly197Val) rs104893856
NM_003924.4(PHOX2B):c.597TCCCAA[3] (p.Pro204_Thr205insAsnPro)
NM_003924.4(PHOX2B):c.605C>G (p.Pro202Arg)
NM_003924.4(PHOX2B):c.608A>G (p.Asn203Ser) rs778887680
NM_003924.4(PHOX2B):c.609C>A (p.Asn203Lys)
NM_003924.4(PHOX2B):c.610C>A (p.Pro204Thr) rs1292727082
NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala) rs1292727082
NM_003924.4(PHOX2B):c.613A>C (p.Thr205Pro)
NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)
NM_003924.4(PHOX2B):c.614_619dup (p.Pro206_Ser207insThrPro)
NM_003924.4(PHOX2B):c.616C>T (p.Pro206Ser) rs754754489
NM_003924.4(PHOX2B):c.617C>T (p.Pro206Leu) rs587778606
NM_003924.4(PHOX2B):c.626G>A (p.Gly209Glu)
NM_003924.4(PHOX2B):c.632A>T (p.Asn211Ile)
NM_003924.4(PHOX2B):c.633T>G (p.Asn211Lys) rs1060501120
NM_003924.4(PHOX2B):c.635G>C (p.Gly212Ala) rs1733890495
NM_003924.4(PHOX2B):c.638G>A (p.Gly213Asp) rs1328014263
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup) rs760638643
NM_003924.4(PHOX2B):c.641G>C (p.Gly214Ala) rs1733890084
NM_003924.4(PHOX2B):c.643G>C (p.Gly215Arg)
NM_003924.4(PHOX2B):c.646G>A (p.Gly216Ser) rs2153112789
NM_003924.4(PHOX2B):c.646G>T (p.Gly216Cys)
NM_003924.4(PHOX2B):c.649G>C (p.Gly217Arg) rs759792321
NM_003924.4(PHOX2B):c.649G>T (p.Gly217Trp)
NM_003924.4(PHOX2B):c.650G>A (p.Gly217Glu)
NM_003924.4(PHOX2B):c.653C>G (p.Pro218Arg)
NM_003924.4(PHOX2B):c.657C>A (p.Ser219Arg) rs1194972256
NM_003924.4(PHOX2B):c.659C>A (p.Pro220Gln)
NM_003924.4(PHOX2B):c.659C>G (p.Pro220Arg) rs1733887201
NM_003924.4(PHOX2B):c.669_671del (p.Pro224del)
NM_003924.4(PHOX2B):c.674G>A (p.Gly225Glu)
NM_003924.4(PHOX2B):c.676G>A (p.Ala226Thr) rs936469212
NM_003924.4(PHOX2B):c.677C>G (p.Ala226Gly)
NM_003924.4(PHOX2B):c.679G>A (p.Ala227Thr) rs778799670
NM_003924.4(PHOX2B):c.679_680delinsTT (p.Ala227Leu) rs1577559108
NM_003924.4(PHOX2B):c.67A>C (p.Thr23Pro)
NM_003924.4(PHOX2B):c.680C>T (p.Ala227Val)
NM_003924.4(PHOX2B):c.685C>A (p.Pro229Thr) rs1328080249
NM_003924.4(PHOX2B):c.685C>T (p.Pro229Ser)
NM_003924.4(PHOX2B):c.688G>A (p.Gly230Arg) rs1733884523
NM_003924.4(PHOX2B):c.688G>C (p.Gly230Arg) rs1733884523
NM_003924.4(PHOX2B):c.689G>A (p.Gly230Glu) rs1577559086
NM_003924.4(PHOX2B):c.689G>C (p.Gly230Ala) rs1577559086
NM_003924.4(PHOX2B):c.68C>G (p.Thr23Ser) rs1389889634
NM_003924.4(PHOX2B):c.691G>A (p.Gly231Ser) rs1577559082
NM_003924.4(PHOX2B):c.694C>A (p.Pro232Thr) rs1433654836
NM_003924.4(PHOX2B):c.694C>G (p.Pro232Ala) rs1433654836
NM_003924.4(PHOX2B):c.695C>G (p.Pro232Arg)
NM_003924.4(PHOX2B):c.700G>A (p.Gly234Ser) rs1289310797
NM_003924.4(PHOX2B):c.703G>C (p.Glu235Gln)
NM_003924.4(PHOX2B):c.709G>A (p.Gly237Ser) rs1256766962
NM_003924.4(PHOX2B):c.70T>C (p.Ser24Pro) rs200971068
NM_003924.4(PHOX2B):c.712A>C (p.Lys238Gln)
NM_003924.4(PHOX2B):c.715G>A (p.Gly239Ser) rs1577559055
NM_003924.4(PHOX2B):c.715G>T (p.Gly239Cys) rs1577559055
NM_003924.4(PHOX2B):c.716G>A (p.Gly239Asp) rs1577559052
NM_003924.4(PHOX2B):c.718G>T (p.Gly240Cys) rs1183113572
NM_003924.4(PHOX2B):c.71C>G (p.Ser24Trp) rs1577561345
NM_003924.4(PHOX2B):c.74G>C (p.Ser25Thr) rs2153113067
NM_003924.4(PHOX2B):c.778G>A (p.Ala260Thr) rs1383528417
NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro)
NM_003924.4(PHOX2B):c.782G>C (p.Gly261Ala)
NM_003924.4(PHOX2B):c.785G>A (p.Gly262Asp) rs768420488
NM_003924.4(PHOX2B):c.790G>T (p.Ala264Ser) rs1320695099
NM_003924.4(PHOX2B):c.791C>A (p.Ala264Asp)
NM_003924.4(PHOX2B):c.796G>A (p.Ala266Thr)
NM_003924.4(PHOX2B):c.800G>C (p.Gly267Ala)
NM_003924.4(PHOX2B):c.802G>A (p.Gly268Ser) rs758728895
NM_003924.4(PHOX2B):c.803G>A (p.Gly268Asp) rs765369462
NM_003924.4(PHOX2B):c.803G>T (p.Gly268Val) rs765369462
NM_003924.4(PHOX2B):c.805C>T (p.Pro269Ser)
NM_003924.4(PHOX2B):c.806C>G (p.Pro269Arg)
NM_003924.4(PHOX2B):c.809G>A (p.Gly270Glu) rs1577558821
NM_003924.4(PHOX2B):c.812A>C (p.Gln271Pro) rs1334079108
NM_003924.4(PHOX2B):c.812A>G (p.Gln271Arg)
NM_003924.4(PHOX2B):c.815G>T (p.Gly272Val) rs1355806826
NM_003924.4(PHOX2B):c.821C>T (p.Ala274Val)
NM_003924.4(PHOX2B):c.823C>G (p.Pro275Ala)
NM_003924.4(PHOX2B):c.824C>T (p.Pro275Leu)
NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3]) rs752879767
NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr) rs1469920302
NM_003924.4(PHOX2B):c.830C>T (p.Pro277Leu) rs1733871030
NM_003924.4(PHOX2B):c.833G>T (p.Gly278Val) rs1577558795
NM_003924.4(PHOX2B):c.841A>C (p.Thr281Pro) rs1733869871
NM_003924.4(PHOX2B):c.842C>A (p.Thr281Asn) rs1577558782
NM_003924.4(PHOX2B):c.842C>T (p.Thr281Ile)
NM_003924.4(PHOX2B):c.845C>G (p.Ser282Cys) rs1577558774
NM_003924.4(PHOX2B):c.848T>A (p.Ile283Asn) rs2153112744
NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met) rs1733869488
NM_003924.4(PHOX2B):c.850C>G (p.Pro284Ala) rs2153112743
NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg) rs1462459716
NM_003924.4(PHOX2B):c.859C>T (p.Leu287Phe)
NM_003924.4(PHOX2B):c.860T>G (p.Leu287Arg)
NM_003924.4(PHOX2B):c.866G>T (p.Gly289Val)
NM_003924.4(PHOX2B):c.877A>G (p.Ser293Gly)
NM_003924.4(PHOX2B):c.879C>A (p.Ser293Arg) rs1577558732
NM_003924.4(PHOX2B):c.884T>C (p.Leu295Pro)
NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr) rs1577558708
NM_003924.4(PHOX2B):c.905A>C (p.Asn302Thr) rs779068107
NM_003924.4(PHOX2B):c.907G>A (p.Gly303Ser)
NM_003924.4(PHOX2B):c.914A>C (p.Lys305Thr)
NM_003924.4(PHOX2B):c.919G>A (p.Ala307Thr) rs780578509
NM_003924.4(PHOX2B):c.919G>T (p.Ala307Ser) rs780578509
NM_003924.4(PHOX2B):c.920C>T (p.Ala307Val) rs1420729662
NM_003924.4(PHOX2B):c.925G>A (p.Val309Met) rs756644504
NM_003924.4(PHOX2B):c.926T>C (p.Val309Ala)
NM_003924.4(PHOX2B):c.938T>A (p.Met313Lys)
NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu) rs1733865401
NM_003924.4(PHOX2B):c.96C>A (p.Asp32Glu)
NM_003924.4(PHOX2B):c.97T>A (p.Phe33Ile)

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