ClinVar Miner

List of variants in gene combination LOC110011216, PHOX2B reported as likely benign for autonomic nervous system disorder

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
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.747A>C (p.Ala249=) rs1443950997 0.00002
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.723_743del (p.Ala254_Ala260del) rs1064792993
NM_003924.4(PHOX2B):c.729A>C (p.Ala243=) rs751829128
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.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.741C>G (p.Ala247=) rs764470906
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
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.747A>G (p.Ala249=) rs1443950997
NM_003924.4(PHOX2B):c.747_773del (p.Ala252_Ala260del) rs778840671
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.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.756G>C (p.Ala252=)
NM_003924.4(PHOX2B):c.759G>C (p.Ala253=)
NM_003924.4(PHOX2B):c.762A>G (p.Ala254=) rs17884724
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_003924.4(PHOX2B):c.771G>C (p.Ala257=) rs772835924
NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del) rs764220516
NM_003924.4(PHOX2B):c.774G>A (p.Ala258=) rs1733875411
NM_003924.4(PHOX2B):c.777A>C (p.Ala259=)
NM_003924.4(PHOX2B):c.777A>G (p.Ala259=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.