ClinVar Miner

List of variants reported as benign for Bohring-Opitz syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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NM_001164603.1(ASXL1):c.-93C>G rs534633106
NM_015338.5(ASXL1):c.*1238C>T rs142200477
NM_015338.5(ASXL1):c.*22A>G rs2295764
NM_015338.5(ASXL1):c.*278G>A rs75599685
NM_015338.5(ASXL1):c.*394A>G rs2295762
NM_015338.5(ASXL1):c.*90T>C rs2295763
NM_015338.5(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609
NM_015338.5(ASXL1):c.2250C>T (p.Pro750=) rs35712951
NM_015338.5(ASXL1):c.2251G>A (p.Val751Ile) rs6058693
NM_015338.5(ASXL1):c.2985C>T (p.His995=) rs62206933
NM_015338.5(ASXL1):c.3519G>A (p.Leu1173=) rs117901891
NM_015338.5(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057
NM_015338.5(ASXL1):c.3759T>C (p.Ser1253=) rs4911231
NM_015338.5(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581
NM_015338.5(ASXL1):c.582C>T (p.His194=) rs116633791

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