List of variants reported as uncertain significance for Congenital central hypoventilation by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 29

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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	0.00029
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr)	rs766767855	0.00017
NM_003924.4(PHOX2B):c.*1310G>T	rs180795407	0.00009
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=)	rs751829128	0.00008
NM_003924.4(PHOX2B):c.*1627G>A	rs886059411	0.00006
NM_003924.4(PHOX2B):c.*1701A>G	rs886059409	0.00006
NM_003924.4(PHOX2B):c.-105G>A	rs538445545	0.00006
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.-210C>A	rs886059414	0.00001
NM_003924.4(PHOX2B):c.*1401C>G	rs781647693	0.00001
NM_003924.4(PHOX2B):c.*1644A>T	rs886059410	0.00001
NM_003924.3(PHOX2B):c.-159C>T	rs887117495
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.*1345G>T	rs1560464984
NM_003924.4(PHOX2B):c.*161G>C	rs114290493
NM_003924.4(PHOX2B):c.*301C>G	rs1303150051
NM_003924.4(PHOX2B):c.*58G>C	rs886059413
NM_003924.4(PHOX2B):c.*680C>G	rs1560465172
NM_003924.4(PHOX2B):c.*789G>A	rs1733838098
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)	rs1733979302
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)	rs764470906

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