ClinVar Miner

List of variants in gene combination LOC130068854, MECP2 reported as benign for atypical Rett syndrome

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.-31AG[2]	rs587783128
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del)	rs398123566
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)	rs398123566
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup)	rs398123566
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)	rs398123566
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup)	rs398123566

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