ClinVar Miner

List of variants studied for B cell deficiency by Suma Genomics

Included ClinVar conditions (66):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000061.3(BTK):c.1834C>T (p.Gln612Ter)
NM_000061.3(BTK):c.991dup (p.Ile331fs) rs2147429948

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