List of variants in gene combination LOC110011216, PHOX2B reported as pathogenic for Haddad syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003924.4(PHOX2B):c.722_759del (p.Ala241fs)	rs1733878065
NM_003924.4(PHOX2B):c.729_749dup (p.Ala254_Ala260dup)	rs772448418
NM_003924.4(PHOX2B):c.738_776dup (p.Ala248_Ala260dup)	rs757020181
NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)	rs775006915
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)	rs779557320
NM_003924.4(PHOX2B):c.756_776dup (p.Ala254_Ala260dup)	rs17879189
NP_003915.2:p.Ala260[(5_9)]

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