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Table 3 Copy number variants encompassing associated SNPs

From: Support for calcium channel gene defects in autism spectrum disorders

Channel/Gene symbol SNP Numbers of deletions/duplicationsa Relevant CNV phenotypes
Cav1.2 rs10848653 12/13 Autism, developmental delay, speech delay
Cav3.1 rs198538 3/3 Microcephaly, mental retardation/developmental delay
CACNA1G rs198545 3/2 Microcephaly, Mental retardation/developmental delay
Cav3.3 rs5750860 0/10 Mental retardation/developmental delay
  1. aReported from two consortia: ISCA (International Standards for Cytogenomic Arrays) reports pathogenic CNV and DECI (Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources) reports chromosomal imbalance in patients
  2. (