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

Minimum submission review status:		Collection method:
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: 14

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys)	rs2147323521
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)	rs2048683301
NM_139058.3(ARX):c.121A>C (p.Met41Leu)	rs2147325425
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg)	rs2048682725
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro)	rs1556046847
NM_139058.3(ARX):c.1522G>A (p.Val508Met)	rs2048670414
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser)	rs747042039
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys)	rs2048669628
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg)	rs2048668859
NM_139058.3(ARX):c.611G>C (p.Arg204Pro)
NM_139058.3(ARX):c.771C>T (p.Arg257=)	rs1601948418
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser)	rs2048724116
NM_139058.3(ARX):c.946G>A (p.Gly316Ser)	rs2048708756

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