ClinVar Miner

List of variants studied for lymphoid system disorder by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.9608G>A (p.Arg3203His)
NM_003664.5(AP3B1):c.944T>C (p.Val315Ala) rs1744194194
NM_006949.4(STXBP2):c.220A>T (p.Ile74Phe) rs2031713036
NM_199242.3(UNC13D):c.2136C>G (p.Ile712Met) rs112245411

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