ClinVar Miner

List of variants studied for B cell deficiency by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982 0.00470
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_005026.5(PIK3CD):c.1809G>C (p.Leu603=) rs151278626 0.00268
NM_001770.6(CD19):c.1274C>T (p.Ser425Phe) rs142818579 0.00099
NM_005026.5(PIK3CD):c.1379G>A (p.Arg460His) rs373779625 0.00006
NM_005026.5(PIK3CD):c.1470+15C>T rs375880685 0.00003
NM_001364905.1(LRBA):c.7088T>A (p.Phe2363Tyr)
NM_003998.4(NFKB1):c.2227+1G>A rs2149222635
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2818A>C (p.Thr940Pro)
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
NM_203447.4(DOCK8):c.4184dup (p.Asn1395fs)

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