ClinVar Miner

List of variants reported as pathogenic for autism spectrum disorder due to AUTS2 deficiency by Baylor Genetics

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.1534dup (p.Ala512fs) rs1789927813
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015570.4(AUTS2):c.2T>C (p.Met1Thr) rs1792258600

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