ClinVar Miner

List of variants in gene ASXL1 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.3759T>C (p.Ser1253=) rs4911231 0.34448
NM_015338.6(ASXL1):c.*22A>G rs2295764 0.33221
NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581 0.03000
NM_015338.6(ASXL1):c.2985C>T (p.His995=) rs62206933 0.02455
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=) rs150391716 0.00538

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