ClinVar Miner

List of variants in gene ASXL1 reported as pathogenic for Myelodysplastic syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	rs373145711	0.00003
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)	rs373221034	0.00002

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