ClinVar Miner

List of variants studied for autism spectrum disorder due to AUTS2 deficiency by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter) rs1562957809
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter) rs1585645384
NM_015570.4(AUTS2):c.901C>T (p.Gln301Ter) rs1585645641

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