ClinVar Miner

List of variants reported as likely pathogenic for phagocytic cell dysfunction by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000250.2(MPO):c.1281del (p.Thr428fs) rs762933005
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000250.2(MPO):c.817dup (p.Ala273fs)

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