ClinVar Miner

List of variants reported as likely benign for autism spectrum disorder due to AUTS2 deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_015570.4(AUTS2):c.1464C>T (p.Tyr488=) rs143055091 0.00129
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val) rs145480547 0.00098
NM_015570.4(AUTS2):c.2397G>A (p.Thr799=) rs140914046 0.00037
NM_015570.4(AUTS2):c.188C>A (p.Pro63Gln) rs199945820 0.00016
NM_015570.4(AUTS2):c.979C>T (p.Arg327Cys) rs141599415 0.00006
NM_015570.4(AUTS2):c.1193G>C (p.Ser398Thr) rs1195381602
NM_015570.4(AUTS2):c.2215G>A (p.Ala739Thr) rs1483994190
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del) rs538005366
NM_015570.4(AUTS2):c.641G>T (p.Ser214Ile)

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