ClinVar Miner

List of variants in gene LOC110011216, PHOX2B studied for Haddad syndrome

Included ClinVar conditions (5):
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Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_003924.3(PHOX2B):c.723_743del (p.Ala254_Ala260del) rs1064792993
NM_003924.3(PHOX2B):c.728C>T (p.Ala243Val) rs1482074468
NM_003924.3(PHOX2B):c.729A>G (p.Ala243=) rs751829128
NM_003924.3(PHOX2B):c.729_749del (p.Ala254_Ala260del) rs772448418
NM_003924.3(PHOX2B):c.729_749dup (p.Ala254_Ala260dup) rs772448418
NM_003924.3(PHOX2B):c.730G>C (p.Ala244Pro) rs1060501124
NM_003924.3(PHOX2B):c.735_761del (p.Ala252_Ala260del) rs749694204
NM_003924.3(PHOX2B):c.735_767del (p.Ala250_Ala260del) rs757850760
NM_003924.3(PHOX2B):c.738_776del (p.Ala248_Ala260del) rs757020181
NM_003924.3(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.3(PHOX2B):c.741_761del (p.Ala254_Ala260del) rs749694204
NM_003924.3(PHOX2B):c.745G>A (p.Ala249Thr) rs1276685806
NM_003924.3(PHOX2B):c.747A>C (p.Ala249=) rs1443950997
NM_003924.3(PHOX2B):c.747_773del (p.Ala252_Ala260del) rs778840671
NM_003924.3(PHOX2B):c.749C>G (p.Ala250Gly) rs765803171
NM_003924.3(PHOX2B):c.750G>A (p.Ala250=) rs17882335
NM_003924.3(PHOX2B):c.753_767del (p.Ala256_Ala260del) rs779557320
NM_003924.3(PHOX2B):c.753_767dup (p.Ala256_Ala260dup) rs779557320
NM_003924.3(PHOX2B):c.756_776del (p.Ala254_Ala260del) rs17879189
NM_003924.3(PHOX2B):c.759G>A (p.Ala253=) rs1018522821
NM_003924.3(PHOX2B):c.760G>A (p.Ala254Thr) rs766767855
NM_003924.3(PHOX2B):c.762_767AGCGGC[3] (p.Ala259_Ala260dup) rs1157597283
NM_003924.3(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_003924.3(PHOX2B):c.768A>G (p.Ala256=) rs574093401
NM_003924.3(PHOX2B):c.771_773GGC[3] (p.Ala260dup) rs17886470
NM_003924.3(PHOX2B):c.771_779del (p.Ala258_Ala260del) rs764220516
NM_003924.3(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779
NM_003924.4(PHOX2B):c.741C>A (p.Ala247=) rs764470906
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=)
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_767del (p.Ala252_Ala260del) rs1577558924
NM_003924.4(PHOX2B):c.744G>C (p.Ala248=) rs758533453
NM_003924.4(PHOX2B):c.750_752GGC[5] (p.Ala260dup)
NM_003924.4(PHOX2B):c.756G>A (p.Ala252=) rs1173050990
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724
NM_003924.4(PHOX2B):c.762A>G (p.Ala254=) rs17884724

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