ClinVar Miner

List of variants studied for atypical Rett syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (12):

Angelman syndrome; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome
Atypical Rett syndrome
Developmental and epileptic encephalopathy, 1; Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
Developmental and epileptic encephalopathy, 2
Developmental and epileptic encephalopathy, 2; Angelman syndrome-like
FOXG1 disorder
Rett syndrome
Rett syndrome, congenital variant
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3
Syndromic X-linked intellectual disability Lubs type; Rett syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	rs61748421
NM_001110792.2(MECP2):c.63-6C>G	rs267608411
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)	rs1555940536
NM_005249.5(FOXG1):c.460del (p.Glu154fs)	rs398124204
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys)	rs879255530
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln)	rs869312700

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