List of variants in gene LOC110011216, PHOX2B studied for Neuroblastoma, susceptibility to, 2; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del)	rs771383153
NM_003924.4(PHOX2B):c.745_746insGGCGGCCGCGGC (p.Ala249delinsGlyArgProArgPro)
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)	rs779557320
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)	rs17879189
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del)	rs761018157
NM_003924.4(PHOX2B):c.775_776insGGCGGCAGCGGCAGCGGCGGC (p.Ala259delinsGlyArgGlnArgGlnArgArgPro)

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