List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 1 by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)	rs104894743
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1465del (p.Ala489fs)	rs587783191
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)	rs387906715
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.428_451dup (p.Gly143_Ala150dup)	rs387906493
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup)	rs1556056125
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)	rs398122854

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