ClinVar Miner

List of variants studied for B cell deficiency by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
GRCh37/hg19 Xp22.12(chrX:19564040-19954016)
NM_006846.4(SPINK5):c.238dup (p.Ala80fs) rs752179828
NM_181523.3(PIK3R1):c.1425+1G>T rs587777709

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