ClinVar Miner

List of variants reported as uncertain significance for atypical Rett syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser)	rs61752387	0.00108
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro)	rs760663911	0.00015
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr)	rs144878564	0.00012
NM_005249.5(FOXG1):c.460GAG[1] (p.Glu155del)	rs1175471807
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val)	rs1555321308

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