List of variants in gene combination LOC110011216, PHOX2B reported as uncertain significance for Congenital central hypoventilation

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	rs766767855	0.00017
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)	rs751829128	0.00008
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)	rs764470906
NM_003924.4(PHOX2B):c.762AGCGGC[3] (p.Ala259_Ala260dup)	rs1157597283

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