ClinVar Miner

List of variants studied for Pitt-Hopkins-like syndrome by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Included ClinVar conditions (5):

Autism, susceptibility to, 15; Cortical dysplasia-focal epilepsy syndrome
Cortical dysplasia-focal epilepsy syndrome
Pitt-Hopkins-like syndrome
Pitt-Hopkins-like syndrome 2
Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001330078.2(NRXN1):c.1158+26A>T	rs201802152	0.00069
NM_001330078.2(NRXN1):c.3653C>T (p.Thr1218Met)	rs201720955	0.00003

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