ClinVar Miner

List of variants studied for B cell deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_203447.4(DOCK8):c.4241+19T>G rs2056303175 0.00001
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter) rs1658388636
NM_005026.5(PIK3CD):c.371-18G>C rs1647322437
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
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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