List of variants in gene ARX reported as pathogenic for Developmental and epileptic encephalopathy, 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs)	rs869312662
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)	rs104894743
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs)	rs1601946502
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del)	rs1601946492
NM_139058.3(ARX):c.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs)	rs587783191
NM_139058.3(ARX):c.1472del (p.Leu491fs)	rs2147318790
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)	rs387906715
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)	rs398122854

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