ClinVar Miner

List of variants reported for Autistic behavior by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003024.3(ITSN1):c.1258G>T (p.Glu420Ter) rs2147788557
NM_003024.3(ITSN1):c.1389_1392del (p.Lys463fs) rs2147816344
NM_003024.3(ITSN1):c.1726G>T (p.Glu576Ter) rs2070234124
NM_003024.3(ITSN1):c.1960C>T (p.Gln654Ter) rs2148042910
NM_003024.3(ITSN1):c.2894dup (p.Tyr965Ter) rs2148264796
NM_003024.3(ITSN1):c.3116G>A (p.Trp1039Ter) rs2148309198
NM_003024.3(ITSN1):c.4354A>T (p.Asn1452Tyr) rs2148556842
NM_003024.3(ITSN1):c.789-2A>G rs2147709709
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs) rs869312704
NM_017635.5(KMT5B):c.234_235del (p.Cys78_Glu79delinsTer) rs2153068015

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