ClinVar Miner

List of variants in gene ASXL1 reported as likely pathogenic for Bohring-Opitz syndrome

Included ClinVar conditions (2):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.1249C>T (p.Arg417Ter) rs375215583 0.00003
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter) rs2011567269 0.00001
NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr) rs2011469389 0.00001
NM_015338.6(ASXL1):c.1281dup (p.Gln428fs) rs886042532
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter) rs2123267182
NM_015338.6(ASXL1):c.1621dup (p.Arg541fs)
NM_015338.6(ASXL1):c.1751dup (p.Val585fs) rs748946310
NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) rs766433101
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015338.6(ASXL1):c.1997dup (p.Gly666_Asp667insTer) rs2145360404
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer) rs765327792
NM_015338.6(ASXL1):c.2558del (p.Pro853fs) rs2515566678
NM_015338.6(ASXL1):c.2790G>A (p.Trp930Ter) rs1569333361
NM_015338.6(ASXL1):c.3125dup (p.Leu1043fs) rs2515576575
NM_015338.6(ASXL1):c.3424C>T (p.Gln1142Ter)
NM_015338.6(ASXL1):c.3448G>T (p.Gly1150Ter)
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs) rs1569337176
NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs) rs2515583794
NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs) rs2515584691
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs) rs1600592990
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) rs1555912897
NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter) rs2011469981
NM_015338.6(ASXL1):c.673C>T (p.Gln225Ter)
NM_015338.6(ASXL1):c.69del (p.Tyr24fs) rs2048205050
NM_015338.6(ASXL1):c.997_1007del (p.Met333fs)

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