List of variants in gene PHOX2B reported as pathogenic for central nervous system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)	rs768420488	0.00001
NM_003924.4(PHOX2B):c.13G>T (p.Glu5Ter)	rs2153113084
NM_003924.4(PHOX2B):c.195C>A (p.Cys65Ter)
NM_003924.4(PHOX2B):c.220C>T (p.Gln74Ter)	rs1297909281
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)	rs73810366
NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer)	rs2153113037
NM_003924.4(PHOX2B):c.249C>A (p.Tyr83Ter)
NM_003924.4(PHOX2B):c.292C>T (p.Gln98Ter)	rs1733947320
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)	rs1733941453
NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter)
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)	rs1733899167
NM_003924.4(PHOX2B):c.479_480dup (p.Ala161fs)
NM_003924.4(PHOX2B):c.618del (p.Ser207fs)	rs587776626
NM_003924.4(PHOX2B):c.618dup (p.Ser207fs)	rs587776626
NM_003924.4(PHOX2B):c.691_698dup (p.Gly234fs)	rs2153112779
NM_003924.4(PHOX2B):c.692del (p.Gly231fs)	rs1310852326
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)	rs761018157
NM_003924.4(PHOX2B):c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)
NM_003924.4(PHOX2B):c.866dup (p.Pro290fs)	rs1733868277

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