ClinVar Miner

List of variants studied for atypical Rett syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 5

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 14q12(chr14:28766690-29666306)x1
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	rs267608501
NM_005249.5(FOXG1):c.256del (p.Gln86fs)	rs786205001
NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter)
NM_005249.5(FOXG1):c.814_821del (p.Lys272fs)

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