ClinVar Miner

List of variants in gene ASXL1 reported as likely benign for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00178
NM_015338.6(ASXL1):c.252+11T>C rs143337375 0.00128
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) rs140197482 0.00076
NM_015338.6(ASXL1):c.2618C>T (p.Pro873Leu) rs202098158 0.00006
NM_015338.6(ASXL1):c.2802T>C (p.Ala934=) rs571165637 0.00005
NM_015338.6(ASXL1):c.3503G>C (p.Ser1168Thr) rs587778062 0.00004
NM_015338.6(ASXL1):c.3621C>G (p.Val1207=) rs781523302 0.00004
NM_015338.6(ASXL1):c.314C>T (p.Thr105Met) rs749495615 0.00001
NM_015338.6(ASXL1):c.3212C>T (p.Ala1071Val) rs531415735 0.00001
NM_015338.6(ASXL1):c.1698G>C (p.Glu566Asp)
NM_015338.6(ASXL1):c.2071C>A (p.Leu691Ile)
NM_015338.6(ASXL1):c.2544A>T (p.Thr848=) rs142836262
NM_015338.6(ASXL1):c.57+19G>A rs200198574

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