List of variants reported as pathogenic for severe neonatal-onset encephalopathy with microcephaly by RettBASE

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	rs61752992
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs)	rs267608428
NM_001110792.2(MECP2):c.414-3_419del	rs267608466
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs)	rs267608488
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)	rs61749751
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs)	rs62931162

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