ClinVar Miner

List of variants reported as uncertain significance for autism spectrum disorder due to AUTS2 deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015570.4(AUTS2):c.607C>T (p.Arg203Trp) rs768770455 0.00001
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup) rs538005366
NM_015570.4(AUTS2):c.3632C>A (p.Thr1211Asn) rs1416757959
NM_015570.4(AUTS2):c.3707G>A (p.Arg1236Lys) rs201704456
NM_015570.4(AUTS2):c.932C>G (p.Thr311Arg) rs1454617445

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