ClinVar Miner

List of variants in gene ASXL1 reported by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs) rs1569324457
NM_015338.6(ASXL1):c.1720-1G>A rs1254271466

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