ClinVar Miner

List of variants in gene ASXL1 reported as uncertain significance by Revvity Omics, Revvity

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.3401C>T (p.Pro1134Leu) rs367744979 0.00002
NM_015338.6(ASXL1):c.1073A>G (p.Tyr358Cys) rs1415471931 0.00001
NM_015338.6(ASXL1):c.4046T>C (p.Val1349Ala) rs2011922573 0.00001
NM_015338.6(ASXL1):c.4150A>G (p.Asn1384Asp) rs768021025 0.00001
NM_015338.6(ASXL1):c.2171T>C (p.Leu724Pro) rs2145364556
NM_015338.6(ASXL1):c.2878T>G (p.Trp960Gly) rs2515572886
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.3506C>T (p.Ser1169Phe) rs1212204313
NM_015338.6(ASXL1):c.3847G>A (p.Gly1283Ser) rs751259103
NM_015338.6(ASXL1):c.4204A>G (p.Met1402Val) rs1247685297
NM_015338.6(ASXL1):c.453C>A (p.Ser151Arg) rs750955319

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