ClinVar Miner

List of variants in gene combination LOC110011216, PHOX2B reported as uncertain significance for digestive system disorder

Included ClinVar conditions (605):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.749C>G (p.Ala250Gly) rs765803171 0.00029
NM_003924.4(PHOX2B):c.760G>A (p.Ala254Thr) rs766767855 0.00017
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=) rs751829128 0.00008
NM_003924.4(PHOX2B):c.766G>A (p.Ala256Thr) rs761010146 0.00004
NM_003924.4(PHOX2B):c.746C>T (p.Ala249Val) rs752867315 0.00003
NM_003924.4(PHOX2B):c.728C>T (p.Ala243Val) rs1482074468 0.00001
NM_003924.4(PHOX2B):c.730G>C (p.Ala244Pro) rs1060501124 0.00001
NM_003924.4(PHOX2B):c.731C>A (p.Ala244Glu) rs1191194818 0.00001
NM_003924.4(PHOX2B):c.725C>T (p.Ala242Val) rs1733882577
NM_003924.4(PHOX2B):c.729_749del (p.Ala254_Ala260del) rs772448418
NM_003924.4(PHOX2B):c.731C>T (p.Ala244Val) rs1191194818
NM_003924.4(PHOX2B):c.732_733insTCG (p.Ala244_Ala245insSer) rs1733882011
NM_003924.4(PHOX2B):c.733G>A (p.Ala245Thr) rs2153112768
NM_003924.4(PHOX2B):c.734C>T (p.Ala245Val) rs1733881745
NM_003924.4(PHOX2B):c.739G>A (p.Ala247Thr) rs1733881500
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=) rs764470906
NM_003924.4(PHOX2B):c.743C>A (p.Ala248Glu) rs1733881041
NM_003924.4(PHOX2B):c.743C>T (p.Ala248Val) rs1733881041
NM_003924.4(PHOX2B):c.745G>A (p.Ala249Thr) rs1276685806
NM_003924.4(PHOX2B):c.745G>T (p.Ala249Ser)
NM_003924.4(PHOX2B):c.749C>A (p.Ala250Glu) rs765803171
NM_003924.4(PHOX2B):c.750GGC[5] (p.Ala260dup) rs955563168
NM_003924.4(PHOX2B):c.752C>T (p.Ala251Val) rs2153112764
NM_003924.4(PHOX2B):c.761C>T (p.Ala254Val)
NM_003924.4(PHOX2B):c.762AGCGGC[3] (p.Ala259_Ala260dup) rs1157597283
NM_003924.4(PHOX2B):c.767_768insGGCGGCGTCAGCGGC (p.255_258A[4]SAAAA[1]) rs2153112761
NM_003924.4(PHOX2B):c.770C>T (p.Ala257Val) rs2153112760
NM_003924.4(PHOX2B):c.771GGC[3] (p.Ala260dup) rs17886470
NM_003924.4(PHOX2B):c.772G>A (p.Ala258Thr)
NM_003924.4(PHOX2B):c.775G>A (p.Ala259Thr)

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