ClinVar Miner

List of variants in gene LOC110011216, PHOX2B studied for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
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.773C>A (p.Ala258Glu) rs747626591 0.00013
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.747A>C (p.Ala249=) rs1443950997 0.00002
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.735G>A (p.Ala245=) rs1171236347 0.00001
NM_003924.4(PHOX2B):c.741C>A (p.Ala247=) rs764470906 0.00001
NM_003924.4(PHOX2B):c.744G>A (p.Ala248=) rs758533453 0.00001
NM_003924.4(PHOX2B):c.756G>A (p.Ala252=) rs1173050990 0.00001
NM_003924.4(PHOX2B):c.759G>A (p.Ala253=) rs1018522821 0.00001
NM_003924.4(PHOX2B):c.768A>G (p.Ala256=) rs574093401 0.00001
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs) rs1733878065
NM_003924.4(PHOX2B):c.723_743del (p.Ala254_Ala260del) rs1064792993
NM_003924.4(PHOX2B):c.725C>T (p.Ala242Val) rs1733882577
NM_003924.4(PHOX2B):c.729A>C (p.Ala243=) rs751829128
NM_003924.4(PHOX2B):c.729_749del (p.Ala254_Ala260del) rs772448418
NM_003924.4(PHOX2B):c.729_749dup (p.Ala254_Ala260dup) rs772448418
NM_003924.4(PHOX2B):c.731C>T (p.Ala244Val) rs1191194818
NM_003924.4(PHOX2B):c.732G>A (p.Ala244=)
NM_003924.4(PHOX2B):c.732G>C (p.Ala244=) rs1185437293
NM_003924.4(PHOX2B):c.732G>T (p.Ala244=)
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.735G>C (p.Ala245=)
NM_003924.4(PHOX2B):c.735G>T (p.Ala245=)
NM_003924.4(PHOX2B):c.735_761del (p.Ala252_Ala260del) rs749694204
NM_003924.4(PHOX2B):c.735_767del (p.Ala250_Ala260del) rs757850760
NM_003924.4(PHOX2B):c.738G>A (p.Ala246=) rs2153112767
NM_003924.4(PHOX2B):c.738G>C (p.Ala246=) rs2153112767
NM_003924.4(PHOX2B):c.738_776del (p.Ala248_Ala260del) rs757020181
NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup) rs757020181
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.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup) rs775006915
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.741_761del (p.Ala254_Ala260del) rs749694204
NM_003924.4(PHOX2B):c.741_767del (p.Ala252_Ala260del) rs1577558924
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.744G>C (p.Ala248=) rs758533453
NM_003924.4(PHOX2B):c.745G>A (p.Ala249Thr) rs1276685806
NM_003924.4(PHOX2B):c.745G>T (p.Ala249Ser)
NM_003924.4(PHOX2B):c.747A>G (p.Ala249=) rs1443950997
NM_003924.4(PHOX2B):c.747_773del (p.Ala252_Ala260del) rs778840671
NM_003924.4(PHOX2B):c.749C>A (p.Ala250Glu) rs765803171
NM_003924.4(PHOX2B):c.750G>T (p.Ala250=) rs17882335
NM_003924.4(PHOX2B):c.750GGC[3] (p.Ala260del) rs955563168
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.753G>A (p.Ala251=)
NM_003924.4(PHOX2B):c.753G>C (p.Ala251=)
NM_003924.4(PHOX2B):c.753_767del (p.Ala256_Ala260del) rs779557320
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup) rs779557320
NM_003924.4(PHOX2B):c.756G>C (p.Ala252=)
NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del) rs17879189
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup) rs17879189
NM_003924.4(PHOX2B):c.759G>C (p.Ala253=)
NM_003924.4(PHOX2B):c.761C>T (p.Ala254Val)
NM_003924.4(PHOX2B):c.762A>G (p.Ala254=) rs17884724
NM_003924.4(PHOX2B):c.762AGCGGC[3] (p.Ala259_Ala260dup) rs1157597283
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
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.771G>C (p.Ala257=) rs772835924
NM_003924.4(PHOX2B):c.771GGC[3] (p.Ala260dup) rs17886470
NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del) rs764220516
NM_003924.4(PHOX2B):c.772G>A (p.Ala258Thr)
NM_003924.4(PHOX2B):c.774G>A (p.Ala258=) rs1733875411
NM_003924.4(PHOX2B):c.775G>A (p.Ala259Thr)
NM_003924.4(PHOX2B):c.777A>C (p.Ala259=)
NM_003924.4(PHOX2B):c.777A>G (p.Ala259=)
NP_003915.2:p.Ala260[(5_9)]

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