ClinVar Miner

List of variants studied for atypical Rett syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (12):

Angelman syndrome; Developmental and epileptic encephalopathy, 2
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
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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)	rs1005844306	0.00002
NM_001323289.2(CDKL5):c.403+5G>A	rs1342864362	0.00001
NM_000330.4(RS1):c.185-3221G>A	rs374054249
NM_005249.5(FOXG1):c.254C>G (p.Pro85Arg)	rs1822450268
NM_005249.5(FOXG1):c.998C>T (p.Ala333Val)	rs1322496307

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