ClinVar Miner

List of variants in gene combination LOC110011216, PHOX2B reported as likely benign by Ambry Genetics

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_003924.4(PHOX2B):c.749C>G (p.Ala250Gly) rs765803171 0.00029
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.726A>C (p.Ala242=)
NM_003924.4(PHOX2B):c.726A>T (p.Ala242=)
NM_003924.4(PHOX2B):c.729A>C (p.Ala243=) rs751829128
NM_003924.4(PHOX2B):c.729A>T (p.Ala243=)
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.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.741C>G (p.Ala247=) rs764470906
NM_003924.4(PHOX2B):c.741C>T (p.Ala247=)
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.744G>C (p.Ala248=) rs758533453
NM_003924.4(PHOX2B):c.744G>T (p.Ala248=)
NM_003924.4(PHOX2B):c.747A>G (p.Ala249=) rs1443950997
NM_003924.4(PHOX2B):c.747A>T (p.Ala249=)
NM_003924.4(PHOX2B):c.750G>C (p.Ala250=)
NM_003924.4(PHOX2B):c.750G>T (p.Ala250=) rs17882335
NM_003924.4(PHOX2B):c.753G>A (p.Ala251=)
NM_003924.4(PHOX2B):c.753G>C (p.Ala251=)
NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del) rs17879189
NM_003924.4(PHOX2B):c.762A>G (p.Ala254=) rs17884724
NM_003924.4(PHOX2B):c.765G>C (p.Ala255=)
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.771G>T (p.Ala257=)
NM_003924.4(PHOX2B):c.774G>T (p.Ala258=)
NM_003924.4(PHOX2B):c.777A>T (p.Ala259=)

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