List of variants in gene ARX, LOC109610631 studied 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
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)	rs2147324381
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)	rs387906492
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)	rs387906492
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)	rs1365611175
NM_139058.3(ARX):c.370G>T (p.Glu124Ter)	rs2147324296
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)	rs387906493
NM_139058.3(ARX):c.433G>T (p.Ala145Ser)	rs1438576250
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup)	rs1556056125
NM_139058.3(ARX):c.451_464del (p.Ala151fs)
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)	rs757588621
NM_139058.3(ARX):c.457del (p.Ala153fs)

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