List of variants reported as pathogenic for atypical Rett syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)	rs179363900	0.00002
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	rs61752992
NM_001110792.2(MECP2):c.331dup (p.Thr111fs)	rs1603310755
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs)	rs62931162
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)	rs267608395
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter)	rs764343290
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	rs398124204

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