ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_003924.3(PHOX2B):c.738_776del (p.Ala248_Ala260del) rs757020181
NM_003924.3(PHOX2B):c.741_761del (p.Ala254_Ala260del) rs749694204
NM_003924.3(PHOX2B):c.750G>A (p.Ala250=) rs17882335
NM_003924.3(PHOX2B):c.756_776del (p.Ala254_Ala260del) rs17879189
NM_003924.3(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_003924.3(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724

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