605988.G

Country

United Arab Emirates

Sex

Unknown

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_018676.3:c.1322_1329del
NM_032790.3:c.493dup
NM_005908.3:c.545G>A
NM_001287344.2:c.80G>A
NM_000544.3:c.753dup
NM_000051.4:c.8468T>G
NM_138576.3:c.767G>A
NM_203447.3:c.3339dup
NM_080424.2:c.691C>T
NM_001145873.1:c.49+2T>G
NM_156039.3:c.1015del
NM_006726.4:c.974C>T
NM_006726.4:c.8007G>A
NM_006726.4:c.534del
NM_001127593.1:c.425dup
NM_005534.3:c.123C>G
NM_032121.5:c.198+383G>C
NM_007300.3:c.4358-2A>T
NM_033084.4:c.1275_1278+5delinsTTTAT
NM_001113378.1:c.1289_1290del
NM_002641.3:c.1077_1078delinsC

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Remarks

Study on symptomatic and asymptomatic Emirati subjects identified 21 novel variants associated with combined immunodeficiency, antibody deficiency, immune dysregulation, defective innate immunity, and bone marrow failure.

References

Almarzooqi et al. 2021