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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.*214A>G	rs994949118	0.00068
NM_003924.4(PHOX2B):c.*1486T>C	rs530550940	0.00065
NM_003924.4(PHOX2B):c.*693C>T	rs535962589	0.00051
NM_003924.4(PHOX2B):c.*737C>T	rs745503233	0.00028
NM_003924.4(PHOX2B):c.*1310G>T	rs180795407	0.00009
NM_003924.4(PHOX2B):c.*1627G>A	rs886059411	0.00006
NM_003924.4(PHOX2B):c.-105G>A	rs538445545	0.00006
NM_003924.4(PHOX2B):c.*1701A>G	rs886059409	0.00005
NM_003924.4(PHOX2B):c.*638G>C	rs544491872	0.00005
NM_003924.3(PHOX2B):c.-195G>A	rs775569375	0.00004
NM_003924.4(PHOX2B):c.*1582T>C	rs921963841	0.00004
NM_003924.3(PHOX2B):c.-159C>T	rs887117495	0.00001
NM_003924.3(PHOX2B):c.-210C>A	rs886059414	0.00001
NM_003924.4(PHOX2B):c.*1345G>T	rs1560464984	0.00001
NM_003924.4(PHOX2B):c.*1401C>G	rs781647693	0.00001
NM_003924.4(PHOX2B):c.*1644A>T	rs886059410	0.00001
NM_003924.4(PHOX2B):c.*58G>C	rs886059413	0.00001
NM_003924.4(PHOX2B):c.682G>A (p.Gly228Arg)	rs1168393338	0.00001
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)	rs768420488	0.00001
NM_003924.3(PHOX2B):c.-265G>A	rs886059415
NM_003924.4(PHOX2B):c.*1269A>G	rs886059412
NM_003924.4(PHOX2B):c.*12GCG[8]	rs763380864
NM_003924.4(PHOX2B):c.*1334G>C	rs1733823205
NM_003924.4(PHOX2B):c.*161G>C	rs114290493
NM_003924.4(PHOX2B):c.*301C>G	rs1303150051
NM_003924.4(PHOX2B):c.*680C>G	rs1560465172
NM_003924.4(PHOX2B):c.*789G>A	rs1733838098
NM_003924.4(PHOX2B):c.157G>T (p.Ala53Ser)	rs1733982922
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)	rs1733979302
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)	rs1560466246
NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)	rs1469920302

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