ClinVar Miner

List of variants reported as uncertain significance for B cell deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_203447.4(DOCK8):c.4241+19T>G rs2056303175 0.00001
NM_005026.5(PIK3CD):c.371-18G>C rs1647322437
NM_181523.3(PIK3R1):c.769A>C (p.Asn257His) rs1746797117
NM_203447.4(DOCK8):c.2308G>C (p.Glu770Gln) rs2053549124
NM_203447.4(DOCK8):c.3595G>A (p.Asp1199Asn) rs2055912945

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