ClinVar Miner

List of variants in gene PHOX2B studied for embryonal neoplasm

Included ClinVar conditions (58):
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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.*1364G>A rs6826373 0.43664
NM_003924.4(PHOX2B):c.*1387C>T rs11723860 0.26435
NM_003924.4(PHOX2B):c.*674dup rs397840867 0.15674
NM_003924.4(PHOX2B):c.*1662A>T rs1063611 0.04731
NM_003924.4(PHOX2B):c.*1347A>G rs62412180 0.04283
NM_003924.4(PHOX2B):c.*600T>G rs73139116 0.03760
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_003924.4(PHOX2B):c.*1381C>T rs59260453 0.01423
NM_003924.4(PHOX2B):c.*161G>A rs114290493 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_003924.4(PHOX2B):c.*80G>A rs75913938 0.00612
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_003924.4(PHOX2B):c.*278T>A rs73810341 0.00395
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_003924.4(PHOX2B):c.*1126C>G rs118046131 0.00341
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=) rs190973308 0.00162
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.*214A>G rs994949118 0.00068
NM_003924.4(PHOX2B):c.*1486T>C rs530550940 0.00065
NM_003924.4(PHOX2B):c.*693C>T rs535962589 0.00051
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=) rs17879258 0.00039
NM_003924.4(PHOX2B):c.*737C>T rs745503233 0.00029
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949 0.00018
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.*1310G>T rs180795407 0.00009
NM_003924.4(PHOX2B):c.*1627G>A rs886059411 0.00006
NM_003924.4(PHOX2B):c.*1701A>G rs886059409 0.00006
NM_003924.4(PHOX2B):c.*550G>A rs577950819 0.00006
NM_003924.4(PHOX2B):c.-105G>A rs538445545 0.00006
NM_003924.4(PHOX2B):c.*638G>C rs544491872 0.00005
NM_003924.3(PHOX2B):c.-195G>A rs775569375 0.00004
NM_003924.4(PHOX2B):c.*1582T>C rs921963841 0.00004
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn) rs559227588 0.00004
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val) rs748614674 0.00003
NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu) rs964285984 0.00002
NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg) rs759792321 0.00002
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val) rs1335294030 0.00002
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser) rs1260084723 0.00002
NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg) rs767873201 0.00002
NM_003924.3(PHOX2B):c.-210C>A rs886059414 0.00001
NM_003924.4(PHOX2B):c.*1401C>G rs781647693 0.00001
NM_003924.4(PHOX2B):c.*1644A>T rs886059410 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.497C>A (p.Ala166Glu) rs774521395 0.00001
NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del) rs1233756366 0.00001
NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr) rs1060501118 0.00001
NM_003924.4(PHOX2B):c.793G>A (p.Ala265Thr) rs1010753155 0.00001
NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser) rs587778607 0.00001
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser) rs769663483 0.00001
NM_003924.4(PHOX2B):c.917C>A (p.Ala306Asp) rs1352110516 0.00001
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn) rs762234006 0.00001
NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly) rs1733865595 0.00001
NM_003924.3(PHOX2B):c.-159C>T rs887117495
NM_003924.3(PHOX2B):c.-265G>A rs886059415
NM_003924.4(PHOX2B):c.*1156C>A rs560413438
NM_003924.4(PHOX2B):c.*1269A>G rs886059412
NM_003924.4(PHOX2B):c.*12GCG[4] rs763380864
NM_003924.4(PHOX2B):c.*12GCG[8] rs763380864
NM_003924.4(PHOX2B):c.*1334G>C rs1733823205
NM_003924.4(PHOX2B):c.*1345G>T rs1560464984
NM_003924.4(PHOX2B):c.*161G>C rs114290493
NM_003924.4(PHOX2B):c.*194C>T rs186778106
NM_003924.4(PHOX2B):c.*301C>G rs1303150051
NM_003924.4(PHOX2B):c.*549dup rs201654270
NM_003924.4(PHOX2B):c.*58G>C rs886059413
NM_003924.4(PHOX2B):c.*680C>G rs1560465172
NM_003924.4(PHOX2B):c.*789G>A rs1733838098
NM_003924.4(PHOX2B):c.*838A>G rs367652707
NM_003924.4(PHOX2B):c.153T>G (p.Phe51Leu)
NM_003924.4(PHOX2B):c.222G>T (p.Gln74His) rs1577561176
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr) rs1733979302
NM_003924.4(PHOX2B):c.241+1G>A rs2153113036
NM_003924.4(PHOX2B):c.242-5_242-2dup rs1553898065
NM_003924.4(PHOX2B):c.26T>A (p.Leu9His) rs2153113080
NM_003924.4(PHOX2B):c.280G>A (p.Glu94Lys)
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu) rs104893855
NM_003924.4(PHOX2B):c.373A>C (p.Ile125Leu)
NM_003924.4(PHOX2B):c.401A>G (p.Lys134Arg) rs1400901317
NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser) rs1162776926
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=) rs547677836
NM_003924.4(PHOX2B):c.499G>A (p.Ala167Thr) rs1338837491
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.562A>C (p.Lys188Gln)
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.590G>A (p.Gly197Asp) rs104893856
NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala) rs1292727082
NM_003924.4(PHOX2B):c.611C>A (p.Pro204His)
NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg) rs587778606
NM_003924.4(PHOX2B):c.625G>A (p.Gly209Arg)
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup) rs760638643
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.712A>T (p.Lys238Ter)
NM_003924.4(PHOX2B):c.716G>A (p.Gly239Asp) rs1577559052
NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro)
NM_003924.4(PHOX2B):c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)
NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3]) rs752879767
NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu) rs1733870310
NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg) rs1462459716
NM_003924.4(PHOX2B):c.860T>C (p.Leu287Pro)
NM_003924.4(PHOX2B):c.866dup (p.Pro290fs) rs1733868277
NM_003924.4(PHOX2B):c.872T>A (p.Phe291Tyr)
NM_003924.4(PHOX2B):c.880G>A (p.Val294Ile)
NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr) rs1577558708
NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys) rs1553897738

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