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

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.*60G>A	rs558416040	0.00131
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)	rs17879258	0.00039
NM_003924.4(PHOX2B):c.*18G>A	rs776498322	0.00011
NM_003924.4(PHOX2B):c.*19C>A	rs770841700	0.00011
NM_003924.4(PHOX2B):c.*12GCG[4]	rs763380864
NM_003924.4(PHOX2B):c.*549dup	rs201654270
NM_003924.4(PHOX2B):c.429+7G>T	rs1577560174

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