ClinVar Miner

List of variants studied 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: 60
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HGVS dbSNP
NC_000004.12:g.41748769G>A
NM_003924.3(PHOX2B):c.*1126C>G rs118046131
NM_003924.3(PHOX2B):c.*1156C>A rs560413438
NM_003924.3(PHOX2B):c.*1269A>G rs886059412
NM_003924.3(PHOX2B):c.*1310G>T rs180795407
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.*1401C>G rs781647693
NM_003924.3(PHOX2B):c.*1486T>C rs530550940
NM_003924.3(PHOX2B):c.*161G>A rs114290493
NM_003924.3(PHOX2B):c.*1627G>A rs886059411
NM_003924.3(PHOX2B):c.*1644A>T rs886059410
NM_003924.3(PHOX2B):c.*1662A>T rs1063611
NM_003924.3(PHOX2B):c.*1701A>G rs886059409
NM_003924.3(PHOX2B):c.*18G>A rs776498322
NM_003924.3(PHOX2B):c.*194C>T rs186778106
NM_003924.3(PHOX2B):c.*19C>A rs770841700
NM_003924.3(PHOX2B):c.*24_*32delGCGGCGGCG rs763380864
NM_003924.3(PHOX2B):c.*30_*32dupGCG rs763380864
NM_003924.3(PHOX2B):c.*549dup rs201654270
NM_003924.3(PHOX2B):c.*550G>A rs577950819
NM_003924.3(PHOX2B):c.*58G>C rs886059413
NM_003924.3(PHOX2B):c.*600T>G rs73139116
NM_003924.3(PHOX2B):c.*60G>A rs558416040
NM_003924.3(PHOX2B):c.*638G>C rs544491872
NM_003924.3(PHOX2B):c.*674dup rs397840867
NM_003924.3(PHOX2B):c.*693C>T rs535962589
NM_003924.3(PHOX2B):c.*737C>T rs745503233
NM_003924.3(PHOX2B):c.*80G>A rs75913938
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.486C>T (p.Ala162=) rs547677836
NM_003924.3(PHOX2B):c.639C>G (p.Gly213=) rs17879258
NM_003924.3(PHOX2B):c.729A>G (p.Ala243=) rs751829128
NM_003924.3(PHOX2B):c.750G>A (p.Ala250=) rs17882335
NM_003924.3(PHOX2B):c.760G>A (p.Ala254Thr) rs766767855
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.*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.*278T>A
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.*838A>G
NM_003924.4(PHOX2B):c.-105G>A
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)
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.726A>G (p.Ala242=) rs757355779
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864

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