ClinVar Miner

List of variants in gene combination LOC110011216, PHOX2B reported as benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del) rs17879189
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157

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