ClinVar Miner

List of variants studied for Autism spectrum disorder by Diagnostic Laboratory, Strasbourg University Hospital

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.*11del rs1391347556 0.00003
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser) rs1365914320 0.00001
NM_001080517.3(SETD5):c.2591dup (p.Ser865fs) rs2044336029
NM_001353921.2(ARHGEF9):c.16G>A (p.Gly6Ser) rs2056441301
NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys) rs2050115619
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)

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