ClinVar Miner

List of variants reported as likely benign for Haddad syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 295
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_003924.4(PHOX2B):c.*60G>A rs558416040 0.00131
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.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_003924.4(PHOX2B):c.*18G>A rs776498322 0.00011
NM_003924.4(PHOX2B):c.*19C>A rs770841700 0.00011
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=) rs751829128 0.00008
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.834C>T (p.Gly278=) rs761468808 0.00004
NM_003924.4(PHOX2B):c.315C>T (p.Phe105=) rs763804374 0.00003
NM_003924.4(PHOX2B):c.429+9G>T rs543317710 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.747A>C (p.Ala249=) rs1443950997 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.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.159C>G (p.Ala53=) rs1733982727 0.00001
NM_003924.4(PHOX2B):c.162G>T (p.Thr54=) rs1262122327 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.241+15C>T rs201073251 0.00001
NM_003924.4(PHOX2B):c.241+8C>T rs1470351816 0.00001
NM_003924.4(PHOX2B):c.242-7A>G rs1194493882 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.429+13G>A rs749906655 0.00001
NM_003924.4(PHOX2B):c.430-6G>C rs980457183 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.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.735G>A (p.Ala245=) rs1171236347 0.00001
NM_003924.4(PHOX2B):c.741C>A (p.Ala247=) rs764470906 0.00001
NM_003924.4(PHOX2B):c.744G>A (p.Ala248=) rs758533453 0.00001
NM_003924.4(PHOX2B):c.756G>A (p.Ala252=) rs1173050990 0.00001
NM_003924.4(PHOX2B):c.759G>A (p.Ala253=) rs1018522821 0.00001
NM_003924.4(PHOX2B):c.768A>G (p.Ala256=) rs574093401 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.885A>G (p.Leu295=) rs748382088 0.00001
NM_003924.4(PHOX2B):c.891G>C (p.Ser297=) rs1246201245 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.*12GCG[4] rs763380864
NM_003924.4(PHOX2B):c.*549dup rs201654270
NM_003924.4(PHOX2B):c.102T>C (p.Ser34=)
NM_003924.4(PHOX2B):c.114G>A (p.Gln38=) rs766500239
NM_003924.4(PHOX2B):c.117C>T (p.Ala39=) rs1313510563
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.147C>A (p.Thr49=) rs2153113058
NM_003924.4(PHOX2B):c.147C>T (p.Thr49=)
NM_003924.4(PHOX2B):c.153T>C (p.Phe51=) rs1012348354
NM_003924.4(PHOX2B):c.156G>T (p.Gly52=) rs1577561242
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.186G>T (p.Pro62=) rs763699416
NM_003924.4(PHOX2B):c.189A>C (p.Gly63=)
NM_003924.4(PHOX2B):c.204C>A (p.Gly68=) rs1235634555
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.241+10T>A
NM_003924.4(PHOX2B):c.241+11_241+12del
NM_003924.4(PHOX2B):c.241+12C>T
NM_003924.4(PHOX2B):c.241+13A>C
NM_003924.4(PHOX2B):c.241+19del
NM_003924.4(PHOX2B):c.241+9C>T rs1553898201
NM_003924.4(PHOX2B):c.242-12G>A
NM_003924.4(PHOX2B):c.242-13T>C rs1354309701
NM_003924.4(PHOX2B):c.242-14C>T
NM_003924.4(PHOX2B):c.242-16del
NM_003924.4(PHOX2B):c.242-17C>T rs2153112958
NM_003924.4(PHOX2B):c.242-18T>C
NM_003924.4(PHOX2B):c.242-20T>A
NM_003924.4(PHOX2B):c.242-20T>C rs1733950815
NM_003924.4(PHOX2B):c.242-4C>G rs1733950165
NM_003924.4(PHOX2B):c.242-8T>C rs2153112952
NM_003924.4(PHOX2B):c.242-9A>G rs1283706591
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.255C>G (p.Leu85=) rs1577560410
NM_003924.4(PHOX2B):c.261G>C (p.Thr87=) rs996060917
NM_003924.4(PHOX2B):c.267C>T (p.His89=)
NM_003924.4(PHOX2B):c.270C>A (p.Gly90=)
NM_003924.4(PHOX2B):c.270C>G (p.Gly90=) rs1420633452
NM_003924.4(PHOX2B):c.279C>T (p.Asn93=)
NM_003924.4(PHOX2B):c.288C>A (p.Arg96=)
NM_003924.4(PHOX2B):c.295C>A (p.Arg99=) rs1577560349
NM_003924.4(PHOX2B):c.303C>A (p.Ile101=)
NM_003924.4(PHOX2B):c.303C>T (p.Ile101=) rs1733946736
NM_003924.4(PHOX2B):c.306C>T (p.Arg102=) rs140002346
NM_003924.4(PHOX2B):c.330C>G (p.Leu110=)
NM_003924.4(PHOX2B):c.348C>G (p.Val116=)
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.369C>T (p.Pro123=) rs1733943582
NM_003924.4(PHOX2B):c.36T>G (p.Ser12=) rs1577561434
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.387G>A (p.Glu129=) rs2153112933
NM_003924.4(PHOX2B):c.393G>A (p.Leu131=) rs779269711
NM_003924.4(PHOX2B):c.397C>T (p.Leu133=)
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.417G>A (p.Glu139=)
NM_003924.4(PHOX2B):c.420G>A (p.Ala140=) rs1577560187
NM_003924.4(PHOX2B):c.420G>T (p.Ala140=) rs1577560187
NM_003924.4(PHOX2B):c.421C>A (p.Arg141=) rs28939716
NM_003924.4(PHOX2B):c.426C>A (p.Val142=)
NM_003924.4(PHOX2B):c.429+10C>T rs1003452907
NM_003924.4(PHOX2B):c.429+12T>A rs2153112917
NM_003924.4(PHOX2B):c.429+13G>C rs749906655
NM_003924.4(PHOX2B):c.429+14del rs750372598
NM_003924.4(PHOX2B):c.429+18C>T
NM_003924.4(PHOX2B):c.429+19C>A
NM_003924.4(PHOX2B):c.429+19C>G
NM_003924.4(PHOX2B):c.429+19del
NM_003924.4(PHOX2B):c.429+5GC[2] rs2153112918
NM_003924.4(PHOX2B):c.429+7G>T rs1577560174
NM_003924.4(PHOX2B):c.429+8C>A rs779822865
NM_003924.4(PHOX2B):c.429+8C>G rs779822865
NM_003924.4(PHOX2B):c.429+8C>T
NM_003924.4(PHOX2B):c.429+9G>A rs543317710
NM_003924.4(PHOX2B):c.429+9G>C
NM_003924.4(PHOX2B):c.42C>T (p.Tyr14=) rs775101470
NM_003924.4(PHOX2B):c.430-11T>C
NM_003924.4(PHOX2B):c.430-12G>A rs1289243501
NM_003924.4(PHOX2B):c.430-13C>T
NM_003924.4(PHOX2B):c.430-15T>G rs2153112824
NM_003924.4(PHOX2B):c.430-18C>T
NM_003924.4(PHOX2B):c.430-19T>C
NM_003924.4(PHOX2B):c.430-20C>G rs780967053
NM_003924.4(PHOX2B):c.430-20C>T rs780967053
NM_003924.4(PHOX2B):c.430-5G>A rs751132977
NM_003924.4(PHOX2B):c.430-7G>C
NM_003924.4(PHOX2B):c.430-8T>C rs1577559429
NM_003924.4(PHOX2B):c.430-8T>G rs1577559429
NM_003924.4(PHOX2B):c.450C>T (p.Arg150=) rs17881486
NM_003924.4(PHOX2B):c.45G>A (p.Glu15=) rs769573717
NM_003924.4(PHOX2B):c.462C>T (p.Arg154=)
NM_003924.4(PHOX2B):c.465G>A (p.Lys155=)
NM_003924.4(PHOX2B):c.474C>A (p.Arg158=)
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>A (p.Ala164=)
NM_003924.4(PHOX2B):c.492G>C (p.Ala164=)
NM_003924.4(PHOX2B):c.495C>T (p.Ala165=) rs1333598816
NM_003924.4(PHOX2B):c.498G>A (p.Ala166=) rs769236699
NM_003924.4(PHOX2B):c.504G>A (p.Lys168=)
NM_003924.4(PHOX2B):c.510C>T (p.Gly170=) rs2153112808
NM_003924.4(PHOX2B):c.516G>C (p.Ser172=)
NM_003924.4(PHOX2B):c.516G>T (p.Ser172=) rs1292071149
NM_003924.4(PHOX2B):c.522A>G (p.Lys174=)
NM_003924.4(PHOX2B):c.537C>A (p.Ser179=) rs2153112805
NM_003924.4(PHOX2B):c.537C>G (p.Ser179=)
NM_003924.4(PHOX2B):c.558G>A (p.Glu186=) rs1428966376
NM_003924.4(PHOX2B):c.576G>A (p.Pro192=) rs1733892582
NM_003924.4(PHOX2B):c.591C>A (p.Gly197=) rs144414806
NM_003924.4(PHOX2B):c.600C>G (p.Pro200=) rs2153112798
NM_003924.4(PHOX2B):c.624C>T (p.Cys208=) rs1060504149
NM_003924.4(PHOX2B):c.630G>T (p.Ala210=) rs370087972
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.645C>T (p.Gly215=) rs1577559183
NM_003924.4(PHOX2B):c.648C>A (p.Gly216=) rs1010286039
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.660G>A (p.Pro220=) rs1435630597
NM_003924.4(PHOX2B):c.660G>T (p.Pro220=)
NM_003924.4(PHOX2B):c.672G>A (p.Pro224=) rs1348881057
NM_003924.4(PHOX2B):c.672G>C (p.Pro224=) rs1348881057
NM_003924.4(PHOX2B):c.675G>A (p.Gly225=) rs1577559129
NM_003924.4(PHOX2B):c.675G>T (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>A (p.Pro229=)
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>T (p.Pro232=)
NM_003924.4(PHOX2B):c.699A>G (p.Gly233=) rs2153112778
NM_003924.4(PHOX2B):c.69C>G (p.Thr23=) rs1303902128
NM_003924.4(PHOX2B):c.702C>A (p.Gly234=)
NM_003924.4(PHOX2B):c.702C>G (p.Gly234=) rs1293065990
NM_003924.4(PHOX2B):c.705A>G (p.Glu235=)
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.70T>C (p.Ser24Pro) rs200971068
NM_003924.4(PHOX2B):c.711C>T (p.Gly237=) rs1733883306
NM_003924.4(PHOX2B):c.714G>A (p.Lys238=) rs1553897810
NM_003924.4(PHOX2B):c.717C>A (p.Gly239=) rs1362731022
NM_003924.4(PHOX2B):c.717C>G (p.Gly239=)
NM_003924.4(PHOX2B):c.720C>T (p.Gly240=) rs2153112774
NM_003924.4(PHOX2B):c.723A>G (p.Ala241=) rs1204677453
NM_003924.4(PHOX2B):c.723A>T (p.Ala241=)
NM_003924.4(PHOX2B):c.723_743del (p.Ala254_Ala260del) rs1064792993
NM_003924.4(PHOX2B):c.729A>C (p.Ala243=) rs751829128
NM_003924.4(PHOX2B):c.72G>A (p.Ser24=) rs910430385
NM_003924.4(PHOX2B):c.732G>A (p.Ala244=)
NM_003924.4(PHOX2B):c.732G>C (p.Ala244=) rs1185437293
NM_003924.4(PHOX2B):c.732G>T (p.Ala244=)
NM_003924.4(PHOX2B):c.735G>C (p.Ala245=)
NM_003924.4(PHOX2B):c.735G>T (p.Ala245=)
NM_003924.4(PHOX2B):c.735_761del (p.Ala252_Ala260del) rs749694204
NM_003924.4(PHOX2B):c.735_767del (p.Ala250_Ala260del) rs757850760
NM_003924.4(PHOX2B):c.738G>A (p.Ala246=) rs2153112767
NM_003924.4(PHOX2B):c.738G>C (p.Ala246=) rs2153112767
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=) rs764470906
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
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.747A>G (p.Ala249=) rs1443950997
NM_003924.4(PHOX2B):c.747_773del (p.Ala252_Ala260del) rs778840671
NM_003924.4(PHOX2B):c.750G>T (p.Ala250=) rs17882335
NM_003924.4(PHOX2B):c.750GGC[3] (p.Ala260del) rs955563168
NM_003924.4(PHOX2B):c.753G>A (p.Ala251=)
NM_003924.4(PHOX2B):c.753G>C (p.Ala251=)
NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del) rs779557320
NM_003924.4(PHOX2B):c.756G>C (p.Ala252=)
NM_003924.4(PHOX2B):c.759G>C (p.Ala253=)
NM_003924.4(PHOX2B):c.762A>G (p.Ala254=) rs17884724
NM_003924.4(PHOX2B):c.771G>C (p.Ala257=) rs772835924
NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del) rs764220516
NM_003924.4(PHOX2B):c.774G>A (p.Ala258=) rs1733875411
NM_003924.4(PHOX2B):c.777A>C (p.Ala259=)
NM_003924.4(PHOX2B):c.777A>G (p.Ala259=)
NM_003924.4(PHOX2B):c.787C>T (p.Leu263=) rs749254001
NM_003924.4(PHOX2B):c.789G>A (p.Leu263=) rs2153112754
NM_003924.4(PHOX2B):c.795G>A (p.Ala265=) rs1440737466
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.798T>G (p.Ala266=) rs2153112753
NM_003924.4(PHOX2B):c.801G>A (p.Gly267=) rs778114366
NM_003924.4(PHOX2B):c.801G>C (p.Gly267=)
NM_003924.4(PHOX2B):c.810A>T (p.Gly270=) rs2153112752
NM_003924.4(PHOX2B):c.825C>A (p.Pro275=)
NM_003924.4(PHOX2B):c.828C>T (p.Gly276=)
NM_003924.4(PHOX2B):c.837C>T (p.Pro279=)
NM_003924.4(PHOX2B):c.840C>A (p.Ile280=)
NM_003924.4(PHOX2B):c.843C>T (p.Thr281=) rs2153112745
NM_003924.4(PHOX2B):c.849C>A (p.Ile283=) rs1733869488
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.864G>T (p.Gly288=)
NM_003924.4(PHOX2B):c.870C>T (p.Pro290=) rs17885864
NM_003924.4(PHOX2B):c.87C>A (p.Ala29=) rs1336670718
NM_003924.4(PHOX2B):c.87C>T (p.Ala29=)
NM_003924.4(PHOX2B):c.882C>T (p.Val294=)
NM_003924.4(PHOX2B):c.891G>A (p.Ser297=)
NM_003924.4(PHOX2B):c.903C>T (p.Pro301=)
NM_003924.4(PHOX2B):c.906C>T (p.Asn302=)
NM_003924.4(PHOX2B):c.918C>A (p.Ala306=) rs753912150
NM_003924.4(PHOX2B):c.918C>T (p.Ala306=)
NM_003924.4(PHOX2B):c.933C>T (p.Ser311=) rs2153112725
NM_003924.4(PHOX2B):c.99C>T (p.Phe33=) rs779251110
NM_003924.4(PHOX2B):c.9A>G (p.Lys3=) rs1733989492

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