ClinVar Miner

List of variants studied for autonomic nervous system disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.*1364G>A rs6826373 0.43664
NM_003924.4(PHOX2B):c.*1387C>T rs11723860 0.26435
NM_003924.4(PHOX2B):c.*674dup rs397840867 0.15674
NM_003924.4(PHOX2B):c.*1662A>T rs1063611 0.04731
NM_003924.4(PHOX2B):c.*1347A>G rs62412180 0.04283
NM_003924.4(PHOX2B):c.*600T>G rs73139116 0.03760
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_003924.4(PHOX2B):c.*1381C>T rs59260453 0.01423
NM_003924.4(PHOX2B):c.*161G>A rs114290493 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_003924.4(PHOX2B):c.*80G>A rs75913938 0.00612
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_003924.4(PHOX2B):c.*278T>A rs73810341 0.00395
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_003924.4(PHOX2B):c.*1126C>G rs118046131 0.00341
NM_003924.4(PHOX2B):c.*60G>A rs558416040 0.00131
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772 0.00077
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.639C>G (p.Gly213=) rs17879258 0.00039
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.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_003924.4(PHOX2B):c.*18G>A rs776498322 0.00011
NM_003924.4(PHOX2B):c.*19C>A rs770841700 0.00011
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.*550G>A rs577950819 0.00006
NM_003924.4(PHOX2B):c.-105G>A rs538445545 0.00006
NM_003924.4(PHOX2B):c.*638G>C rs544491872 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 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.*1156C>A rs560413438
NM_003924.4(PHOX2B):c.*1269A>G rs886059412
NM_003924.4(PHOX2B):c.*12GCG[4] rs763380864
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.*194C>T rs186778106
NM_003924.4(PHOX2B):c.*301C>G rs1303150051
NM_003924.4(PHOX2B):c.*549dup rs201654270
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.*838A>G rs367652707
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr) rs1733979302
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=) rs547677836
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=) rs764470906

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