ClinVar Miner

List of variants reported as likely pathogenic for Intellectual disability, autosomal recessive 13

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter) rs267607137 0.00003
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs) rs779744636 0.00001
GRCh38/hg38 8q24.3(chr8:139729118-139736310)x1
NM_001160372.4(TRAPPC9):c.122_123del (p.Val41fs) rs2540546209
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter) rs2071449158
NM_001160372.4(TRAPPC9):c.1623-1G>A rs2539628652
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs) rs2539627983
NM_001160372.4(TRAPPC9):c.2071del (p.Ile691fs)
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter) rs2539378745
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs) rs2489805216
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu) rs1357591960
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter) rs752040819

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