ClinVar Miner

List of variants in gene ASXL1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.4562C>T (p.Ala1521Val) rs2011979374 0.00001
NM_015338.6(ASXL1):c.2011G>T (p.Ala671Ser) rs1600586513
NM_015338.6(ASXL1):c.3232G>A (p.Asp1078Asn) rs1416128377
NM_015338.6(ASXL1):c.3241CTG[1] (p.Leu1082del) rs754183801
NM_015338.6(ASXL1):c.3626G>A (p.Ser1209Asn) rs2515583056
NM_015338.6(ASXL1):c.3730A>G (p.Lys1244Glu) rs771995556
NM_015338.6(ASXL1):c.4173T>A (p.Ser1391Arg) rs778791558
NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del) rs1203207717
NM_015338.6(ASXL1):c.4443T>G (p.Gly1481=) rs1600595830

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