ClinVar Miner

List of variants in gene PHOX2B reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.591C>G (p.Gly197=)	rs144414806	0.00036
NM_003924.4(PHOX2B):c.304C>T (p.Arg102Cys)	rs2153112943

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