List of variants in gene PHOX2B reported as benign by Ambry Genetics

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)	rs17885864	0.03243
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)	rs17885216	0.01029
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)	rs17881486	0.00412
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)	rs73810366	0.00361
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)	rs532711949	0.00018
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)	rs748614674	0.00003
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)	rs762234006	0.00001
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)	rs587778606

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