ClinVar Miner

List of variants studied for atypical Rett syndrome by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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_003159.3(CDKL5):c.2809_2810insA (p.Cys937Ter)	rs1158418673	0.00001
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)	rs63749748
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter)	rs61749739
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_005249.5(FOXG1):c.256del (p.Gln86fs)	rs786205001
NM_005249.5(FOXG1):c.695A>C (p.Asn232Thr)

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