ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability, autosomal recessive 13 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 8q24.3(chr8:139729118-139736310)x1
NM_001160372.4(TRAPPC9):c.1623-1G>A	rs2539628652
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)	rs2489805216

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