ClinVar Miner

List of variants in gene ASXL1 reported as benign by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.2444= (p.Pro815=) rs6058694 0.99998
NM_015338.6(ASXL1):c.719-100C>T rs2295765 0.79423
NM_015338.6(ASXL1):c.140+26A>G rs2295454 0.35246
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.252+2778A>G rs2424879 0.31513
NM_015338.6(ASXL1):c.566-198A>G rs73244991 0.02854
NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581 0.02807
NM_015338.6(ASXL1):c.582C>T (p.His194=) rs116633791 0.02660
NM_015338.6(ASXL1):c.2985C>T (p.His995=) rs62206933 0.02455
NM_015338.6(ASXL1):c.2251G>A (p.Val751Ile) rs6058693 0.02141
NM_015338.6(ASXL1):c.2250C>T (p.Pro750=) rs35712951 0.01615
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01055
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00875
NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057 0.00841
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_015338.6(ASXL1):c.1965C>T (p.Thr655=) rs79865730 0.00535
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) rs146141075 0.00205
NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=) rs143041800 0.00078
NM_015338.6(ASXL1):c.2618C>T (p.Pro873Leu) rs202098158 0.00006
NM_015338.6(ASXL1):c.*90T>C rs2295763
NM_015338.6(ASXL1):c.471+89A>G rs3818190

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