ClinVar Miner

List of variants studied for atypical Rett syndrome by MGZ Medical Genetics Center

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr)	rs1356745875	0.00002
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg)	rs1569548372
NM_001110792.2(MECP2):c.1143_1234del (p.His382fs)
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	rs61750241
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001323289.2(CDKL5):c.2883A>T (p.Ter961Tyr)
NM_001323289.2(CDKL5):c.533_536dup (p.Pro180fs)
NM_001690.4(ATP6V1A):c.524C>T (p.Thr175Ile)

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