ClinVar Miner

List of variants studied 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: 23
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HGVS dbSNP gnomAD frequency
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000631.5(NCF4):c.647C>T (p.Thr216Met) rs146911421 0.00064
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys) rs78950939 0.00051
NM_001805.4(CEBPE):c.205C>T (p.Leu69Phe) rs146580935 0.00039
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.1252C>T (p.Arg418Ter) rs1486049191 0.00001
NM_000631.5(NCF4):c.759-97C>T rs1940182719 0.00001
NM_000101.4(CYBA):c.467_479del (p.Pro156fs) rs2142869764
NM_000178.4(GSS):c.1295_1296del (p.Tyr432fs) rs777065530
NM_000178.4(GSS):c.152C>T (p.Thr51Met)
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.450T>G (p.Asn150Lys)
NM_000250.2(MPO):c.791A>G (p.Asp264Gly)
NM_000250.2(MPO):c.793_798del (p.Phe265_Thr266del)
NM_000250.2(MPO):c.817dup (p.Ala273fs)
NM_000397.4(CYBB):c.215G>C (p.Cys72Ser)
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_052916.3(RNF157):c.207+16830_207+16831del

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