ClinVar Miner

List of variants studied for atypical Rett syndrome by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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_001110792.2(MECP2):c.504C>G (p.Asp168Glu)	rs61748408
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	rs61750240
NM_001110792.2(MECP2):c.942del (p.Ile315fs)	rs267608548
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)	rs267608493
NM_001323289.2(CDKL5):c.655C>T (p.Gln219Ter)
NM_005249.5(FOXG1):c.512dup (p.Glu173fs)	rs2138661043

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