ClinVar Miner

List of variants reported as benign for Congenital central hypoventilation

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Total variants: 31
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HGVS dbSNP
NM_003924.3(PHOX2B):c.*1126C>G rs118046131
NM_003924.3(PHOX2B):c.*1156C>A rs560413438
NM_003924.3(PHOX2B):c.*1347A>G rs62412180
NM_003924.3(PHOX2B):c.*1364G>A rs6826373
NM_003924.3(PHOX2B):c.*1381C>T rs59260453
NM_003924.3(PHOX2B):c.*1387C>T rs11723860
NM_003924.3(PHOX2B):c.*161G>A rs114290493
NM_003924.3(PHOX2B):c.*1662A>T rs1063611
NM_003924.3(PHOX2B):c.*194C>T rs186778106
NM_003924.3(PHOX2B):c.*550G>A rs577950819
NM_003924.3(PHOX2B):c.*600T>G rs73139116
NM_003924.3(PHOX2B):c.*674dup rs397840867
NM_003924.3(PHOX2B):c.*80G>A rs75913938
NM_003924.3(PHOX2B):c.288C>G (p.Arg96=) rs201892150
NM_003924.3(PHOX2B):c.486C>T (p.Ala162=) rs547677836
NM_003924.3(PHOX2B):c.642C>T (p.Gly214=) rs190973308
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_003924.3(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772
NM_003924.4(PHOX2B):c.*278T>A
NM_003924.4(PHOX2B):c.*838A>G
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864

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