ClinVar Miner

List of variants studied for autism, susceptiblity to by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (22):

Asperger syndrome, X-linked, susceptibility to, 2; Autism, susceptibility to, X-linked 2
Autism, susceptibility to, 1
Autism, susceptibility to, 10
Autism, susceptibility to, 15
Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome
Autism, susceptibility to, 16
Autism, susceptibility to, 17
Autism, susceptibility to, 19
Autism, susceptibility to, 20
Autism, susceptibility to, 5
Autism, susceptibility to, 9
Autism, susceptibility to, X-linked 1
Autism, susceptibility to, X-linked 2
Autism, susceptibility to, X-linked 3
Autism, susceptibility to, X-linked 4
Autism, susceptibility to, X-linked 5
Autism, susceptibility to, X-linked 5; Intellectual disability, X-linked, syndromic, 35
Autism, susceptiblity to
Epsilon-trimethyllysine hydroxylase deficiency
Intellectual developmental disorder with autism and macrocephaly
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
X-linked intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012309.5(SHANK2):c.2439+1G>A	rs2058899044
NM_012309.5(SHANK2):c.3454dup (p.Glu1152fs)	rs1565529155
NM_173495.3(PTCHD1):c.95C>T (p.Pro32Leu)

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