ClinVar Miner

List of variants in gene PHOX2B reported by GeneDx

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.429+101A>G rs28647582 0.38224
NM_003924.4(PHOX2B):c.242-115G>A rs6811325 0.37759
NC_000004.12:g.41749194G>A rs28462174 0.09673
NC_000004.12:g.41749306G>A rs28727473 0.08535
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
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.429+80G>T rs114158743 0.00540
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=) rs190973308 0.00162
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.591C>G (p.Gly197=) rs144414806 0.00036
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.683G>T (p.Gly228Val) rs1335294030 0.00002
NM_003924.4(PHOX2B):c.692G>A (p.Gly231Asp) rs1044995380 0.00002
NM_003924.4(PHOX2B):c.78G>A (p.Leu26=) rs746854983 0.00002
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.826G>A (p.Gly276Ser) rs587778607 0.00001
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser) rs769663483 0.00001
NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly) rs1733865595 0.00001
NM_003924.4(PHOX2B):c.286C>A (p.Arg96Ser) rs1450088667
NM_003924.4(PHOX2B):c.323_334del (p.Ala108_Lys111del)
NM_003924.4(PHOX2B):c.360_362del (p.His121del) rs2153112938
NM_003924.4(PHOX2B):c.379A>T (p.Thr127Ser)
NM_003924.4(PHOX2B):c.430-172A>C rs2196822
NM_003924.4(PHOX2B):c.575del (p.Pro192fs)
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup) rs761018157
NM_003924.4(PHOX2B):c.779C>T (p.Ala260Val) rs1060501125
NM_003924.4(PHOX2B):c.795G>T (p.Ala265=) rs1440737466
NM_003924.4(PHOX2B):c.819G>A (p.Trp273Ter)
NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met) rs1733869488
NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu) rs1733865401

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