ClinVar Miner

List of variants in gene PHOX2B reported as benign for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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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.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.*80G>A rs75913938 0.00612
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.642C>T (p.Gly214=) rs190973308 0.00162
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=) rs201892150 0.00145
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772 0.00077
NM_003924.4(PHOX2B):c.591C>G (p.Gly197=) rs144414806 0.00036
NM_003924.4(PHOX2B):c.*550G>A rs577950819 0.00006
NM_003924.4(PHOX2B):c.*1156C>A rs560413438
NM_003924.4(PHOX2B):c.*194C>T rs186778106
NM_003924.4(PHOX2B):c.*838A>G rs367652707
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=) rs547677836

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