ClinVar Miner

List of variants in gene CD81 studied for agammaglobulinemia

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_004356.4(CD81):c.597C>T (p.Ser199=) rs14077 0.07917
NM_004356.4(CD81):c.648+10C>T rs34510250 0.00724
NM_004356.4(CD81):c.414T>C (p.Asp138=) rs143644902 0.00208
NM_004356.4(CD81):c.159C>T (p.Pro53=) rs200365372 0.00021
NM_004356.4(CD81):c.583G>A (p.Asp195Asn) rs144435973 0.00008
NM_004356.4(CD81):c.409G>A (p.Asp137Asn) rs767263004 0.00006
NM_004356.4(CD81):c.182-5G>A rs562261414 0.00005
NM_004356.4(CD81):c.352C>T (p.Gln118Ter)
NM_004356.4(CD81):c.459+4C>T rs116421908
NM_004356.4(CD81):c.561+1G>A rs587776775

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