ClinVar Miner

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

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Total variants: 10
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NM_003924.3(PHOX2B):c.728C>T (p.Ala243Val) rs1482074468
NM_003924.3(PHOX2B):c.729A>G (p.Ala243=) rs751829128
NM_003924.3(PHOX2B):c.729_749del (p.Ala254_Ala260del) rs772448418
NM_003924.3(PHOX2B):c.745G>A (p.Ala249Thr) rs1276685806
NM_003924.3(PHOX2B):c.749C>G (p.Ala250Gly) rs765803171
NM_003924.3(PHOX2B):c.760G>A (p.Ala254Thr) rs766767855
NM_003924.3(PHOX2B):c.762_767AGCGGC[3] (p.Ala259_Ala260dup) rs1157597283
NM_003924.3(PHOX2B):c.771_773GGC[3] (p.Ala260dup) rs17886470
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
NM_003924.4(PHOX2B):c.750_752GGC[5] (p.Ala260dup)

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