ClinVar Miner

List of variants studied for Neuroblastoma, susceptibility to, 2 by Baylor Genetics

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr) rs532711949 0.00018
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.746C>T (p.Ala249Val) rs752867315 0.00003
NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro) rs1383528417 0.00003
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.694C>A (p.Pro232Thr) rs1433654836 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_003924.4(PHOX2B):c.242-5_242-2dup rs1553898065 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.550A>G (p.Ser184Gly) rs1733894415 0.00001
NM_003924.4(PHOX2B):c.611C>A (p.Pro204His) rs1251053412 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.730G>C (p.Ala244Pro) rs1060501124 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.904A>T (p.Asn302Tyr) rs1577558708 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_003924.4(PHOX2B):c.153T>G (p.Phe51Leu) rs1012348354
NM_003924.4(PHOX2B):c.222G>T (p.Gln74His) rs1577561176
NM_003924.4(PHOX2B):c.241+1G>A rs2153113036
NM_003924.4(PHOX2B):c.26T>A (p.Leu9His) rs2153113080
NM_003924.4(PHOX2B):c.280G>A (p.Glu94Lys) rs1733948073
NM_003924.4(PHOX2B):c.373A>C (p.Ile125Leu) rs560843362
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.499G>A (p.Ala167Thr) rs1338837491
NM_003924.4(PHOX2B):c.562A>C (p.Lys188Gln) rs1733892907
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.610C>G (p.Pro204Ala) rs1292727082
NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser) rs1228610109
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg) rs587778606
NM_003924.4(PHOX2B):c.625G>A (p.Gly209Arg) rs2552096853
NM_003924.4(PHOX2B):c.694C>G (p.Pro232Ala) rs1433654836
NM_003924.4(PHOX2B):c.695C>G (p.Pro232Arg) rs2552096833
NM_003924.4(PHOX2B):c.712A>T (p.Lys238Ter) rs2552096830
NM_003924.4(PHOX2B):c.742G>A (p.Ala248Thr) rs2552096818
NM_003924.4(PHOX2B):c.745G>T (p.Ala249Ser) rs1276685806
NM_003924.4(PHOX2B):c.767C>T (p.Ala256Val) rs2552096803
NM_003924.4(PHOX2B):c.770C>T (p.Ala257Val) rs2153112760
NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3]) rs752879767
NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly) rs2552096780
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu) rs1733870310
NM_003924.4(PHOX2B):c.872T>A (p.Phe291Tyr) rs2552096769
NM_003924.4(PHOX2B):c.880G>A (p.Val294Ile) rs772358257
NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys) rs1553897738

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