ClinVar Miner

List of variants in gene ASXL3 reported by Mendelics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg) rs144534810 0.00679
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_030632.3(ASXL3):c.1884_1885del (p.Gly629fs) rs1599564118
NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs) rs1599570895
NM_030632.3(ASXL3):c.3807T>G (p.Ser1269Arg) rs2145425648

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