ClinVar Miner

List of variants studied for autoimmune lymphoproliferative syndrome type 2B by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001228.5(CASP8):c.-26-8094G>C rs755371396 0.00001
NM_001228.5(CASP8):c.-26-8138T>A rs764133648
NM_001228.5(CASP8):c.-26-8157C>A rs201548238
NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter) rs1368296717

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