ClinVar Miner

List of variants studied for Bohring-Opitz syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015338.6(ASXL1):c.3351C>A (p.Pro1117=) rs373603259 0.00029
NM_015338.6(ASXL1):c.*1556_*1557del rs770877952 0.00026
NM_015338.6(ASXL1):c.2802T>C (p.Ala934=) rs571165637 0.00005
NM_015338.6(ASXL1):c.3212C>T (p.Ala1071Val) rs531415735 0.00001
NM_015338.6(ASXL1):c.-88GCC[5] rs886056593
NM_015338.6(ASXL1):c.2456del (p.Gly819fs) rs2515564525
NM_015338.6(ASXL1):c.2544A>T (p.Thr848=) rs142836262
NM_015338.6(ASXL1):c.2789G>A (p.Trp930Ter) rs2515571395

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