ClinVar Miner

List of variants reported as uncertain significance for leukopenia by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024598.4(USB1):c.784A>G (p.Met262Val) rs143382202 0.00027
NM_024598.4(USB1):c.512T>C (p.Ile171Thr) rs149725439 0.00017
NM_007259.5(VPS45):c.260G>A (p.Arg87Gln) rs183320612 0.00004
NM_003467.3(CXCR4):c.373C>G (p.Leu125Val) rs1001278766 0.00001
NM_000081.4(LYST):c.9608G>A (p.Arg3203His)
NM_003664.5(AP3B1):c.944T>C (p.Val315Ala) rs1744194194

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