ClinVar Miner

List of variants studied for atypical Rett syndrome by GenomeConnect, ClinGen

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.331dup (p.Thr111fs)	rs1603310755
NM_001110792.2(MECP2):c.413+5G>A	rs2148666320
NM_001323289.2(CDKL5):c.59G>T (p.Gly20Val)	rs786204962
NM_005249.5(FOXG1):c.1062del (p.Ser355fs)	rs1881817310

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