ClinVar Miner

List of variants studied for atypical Rett syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.145+17A>G	rs199814742	0.00355
NM_000330.4(RS1):c.184+3118C>T	rs139155110	0.00352
NM_000330.4(RS1):c.184+3199G>A	rs36022183	0.00345
NM_005249.5(FOXG1):c.447C>T (p.Ala149=)	rs112803404	0.00126
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=)	rs144434028	0.00023
NM_001323289.2(CDKL5):c.100-7C>T	rs752279222	0.00004

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