ClinVar Miner

List of variants reported as uncertain significance for Haddad syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NC_000004.12:g.41748769G>A
NM_003924.3(PHOX2B):c.*1269A>G rs886059412
NM_003924.3(PHOX2B):c.*1310G>T rs180795407
NM_003924.3(PHOX2B):c.*1401C>G rs781647693
NM_003924.3(PHOX2B):c.*1486T>C rs530550940
NM_003924.3(PHOX2B):c.*1627G>A rs886059411
NM_003924.3(PHOX2B):c.*1644A>T rs886059410
NM_003924.3(PHOX2B):c.*1701A>G rs886059409
NM_003924.3(PHOX2B):c.*30_*32dupGCG rs763380864
NM_003924.3(PHOX2B):c.*58G>C rs886059413
NM_003924.3(PHOX2B):c.*638G>C rs544491872
NM_003924.3(PHOX2B):c.*693C>T rs535962589
NM_003924.3(PHOX2B):c.*737C>T rs745503233
NM_003924.3(PHOX2B):c.-195G>A rs775569375
NM_003924.3(PHOX2B):c.-210C>A rs886059414
NM_003924.3(PHOX2B):c.-265G>A rs886059415
NM_003924.3(PHOX2B):c.729A>G (p.Ala243=) rs751829128
NM_003924.3(PHOX2B):c.760G>A (p.Ala254Thr) rs766767855
NM_003924.4(PHOX2B):c.*1334G>C
NM_003924.4(PHOX2B):c.*1345G>T
NM_003924.4(PHOX2B):c.*1582T>C
NM_003924.4(PHOX2B):c.*161G>C
NM_003924.4(PHOX2B):c.*214A>G
NM_003924.4(PHOX2B):c.*301C>G
NM_003924.4(PHOX2B):c.*680C>G
NM_003924.4(PHOX2B):c.*789G>A
NM_003924.4(PHOX2B):c.-105G>A
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)

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