ClinVar Miner

List of variants in gene PHOX2B reported as likely benign for Congenital central hypoventilation

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Gene type:
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Total variants: 48
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HGVS dbSNP
NM_003924.3(PHOX2B):c.*18G>A rs776498322
NM_003924.3(PHOX2B):c.*19C>A rs770841700
NM_003924.3(PHOX2B):c.*24_*32delGCGGCGGCG rs763380864
NM_003924.3(PHOX2B):c.*549dup rs201654270
NM_003924.3(PHOX2B):c.*60G>A rs558416040
NM_003924.3(PHOX2B):c.120T>C (p.Ser40=) rs756519209
NM_003924.3(PHOX2B):c.135C>T (p.Asn45=) rs878854616
NM_003924.3(PHOX2B):c.138G>A (p.Pro46=) rs1486629336
NM_003924.3(PHOX2B):c.165C>T (p.Ser55=) rs762144117
NM_003924.3(PHOX2B):c.186G>T (p.Pro62=) rs763699416
NM_003924.3(PHOX2B):c.241+9C>T rs1553898201
NM_003924.3(PHOX2B):c.242-9A>G rs1283706591
NM_003924.3(PHOX2B):c.306C>G (p.Arg102=) rs140002346
NM_003924.3(PHOX2B):c.306C>T (p.Arg102=) rs140002346
NM_003924.3(PHOX2B):c.309C>G (p.Thr103=) rs199611260
NM_003924.3(PHOX2B):c.33C>T (p.Ser11=) rs773982008
NM_003924.3(PHOX2B):c.393G>C (p.Leu131=) rs779269711
NM_003924.3(PHOX2B):c.39C>T (p.Ala13=) rs748767112
NM_003924.3(PHOX2B):c.429+8C>A rs779822865
NM_003924.3(PHOX2B):c.429+9G>T rs543317710
NM_003924.3(PHOX2B):c.480G>C (p.Ala160=) rs752437432
NM_003924.3(PHOX2B):c.486C>A (p.Ala162=) rs547677836
NM_003924.3(PHOX2B):c.486C>T (p.Ala162=) rs547677836
NM_003924.3(PHOX2B):c.495C>T (p.Ala165=) rs1333598816
NM_003924.3(PHOX2B):c.591C>G (p.Gly197=) rs144414806
NM_003924.3(PHOX2B):c.624C>T (p.Cys208=) rs1060504149
NM_003924.3(PHOX2B):c.630G>T (p.Ala210=) rs370087972
NM_003924.3(PHOX2B):c.639C>G (p.Gly213=) rs17879258
NM_003924.3(PHOX2B):c.654C>A (p.Pro218=) rs770437869
NM_003924.3(PHOX2B):c.687C>G (p.Pro229=) rs1391920139
NM_003924.3(PHOX2B):c.70T>C (p.Ser24Pro) rs200971068
NM_003924.3(PHOX2B):c.714G>A (p.Lys238=) rs1553897810
NM_003924.3(PHOX2B):c.807T>C (p.Pro269=) rs755371263
NM_003924.3(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772
NM_003924.3(PHOX2B):c.885A>G (p.Leu295=) rs748382088
NM_003924.3(PHOX2B):c.942C>T (p.Phe314=) rs751212535
NM_003924.4(PHOX2B):c.231G>A (p.Pro77=) rs376060053
NM_003924.4(PHOX2B):c.231G>T (p.Pro77=) rs376060053
NM_003924.4(PHOX2B):c.315C>T (p.Phe105=) rs763804374
NM_003924.4(PHOX2B):c.345G>A (p.Arg115=) rs747055965
NM_003924.4(PHOX2B):c.408C>T (p.Asp136=) rs1577560212
NM_003924.4(PHOX2B):c.429+7G>T rs1577560174
NM_003924.4(PHOX2B):c.48C>T (p.Ser16=) rs1383504578
NM_003924.4(PHOX2B):c.531C>T (p.Asp177=) rs746303997
NM_003924.4(PHOX2B):c.543C>T (p.Asp181=) rs780690330
NM_003924.4(PHOX2B):c.831C>G (p.Pro277=) rs773606043
NM_003924.4(PHOX2B):c.87C>A (p.Ala29=) rs1336670718
NM_003924.4(PHOX2B):c.921C>G (p.Ala307=) rs1045005323

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