ClinVar Miner

List of variants reported as pathogenic for functional neutrophil defect by OMIM

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837 0.01176
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys) rs78950939 0.00051
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00012
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg) rs137852618 0.00006
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser) rs137852616 0.00003
NM_000211.5(ITGB2):c.533C>T (p.Pro178Leu) rs137852614 0.00002
NM_000211.5(ITGB2):c.1777C>T (p.Arg593Cys) rs137852609 0.00001
NM_000211.5(ITGB2):c.2T>A (p.Met1Lys) rs387906411 0.00001
NM_000211.5(ITGB2):c.382G>A (p.Asp128Asn) rs137852615 0.00001
NM_000250.2(MPO):c.1495C>T (p.Arg499Cys) rs119469014 0.00001
NM_000250.2(MPO):c.1501G>A (p.Gly501Ser) rs119469013 0.00001
NM_001814.6(CTSC):c.1040A>G (p.Tyr347Cys) rs104894211 0.00001
NM_031471.6(FERMT3):c.1275del (p.Glu426fs) rs775138431 0.00001
NM_031471.6(FERMT3):c.1717C>T (p.Arg573Ter) rs121918297 0.00001
NM_000211.5(ITGB2):c.1052A>G (p.Asn351Ser) rs137852613
NM_000211.5(ITGB2):c.329-36_452del
NM_000211.5(ITGB2):c.412T>C (p.Ser138Pro) rs137852617
NM_000211.5(ITGB2):c.446T>C (p.Leu149Pro) rs137852611
NM_000211.5(ITGB2):c.505G>A (p.Gly169Arg) rs137852612
NM_000211.5(ITGB2):c.587A>C (p.Lys196Thr) rs137852610
NM_000211.5(ITGB2):c.[1756C>T;742-14C>A]
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000250.2(MPO):c.1715T>G (p.Leu572Trp) rs119469012
NM_001098426.2(SMARCD2):c.1181+1G>A rs1057518731
NM_001098426.2(SMARCD2):c.401+2T>C rs1057518733
NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer) rs1555580263
NM_001098426.2(SMARCD2):c.511C>T (p.Gln171Ter) rs2144633398
NM_001098426.2(SMARCD2):c.93del (p.Ala32fs) rs1379892630
NM_001805.4(CEBPE):c.249_253del (p.Asp84fs) rs2140292116
NM_001805.4(CEBPE):c.403C>T (p.Arg135Ter)
NM_001805.4(CEBPE):c.509dup (p.Ala171fs) rs2140291802
NM_001805.4(CEBPE):c.655_665del (p.Lys220fs)
NM_001805.4(CEBPE):c.742_747del (p.Ser248_Arg249del)
NM_001814.6(CTSC):c.1047del (p.Gly350fs)
NM_001814.6(CTSC):c.1056del (p.Phe351_Tyr352insTer)
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001814.6(CTSC):c.1287G>C (p.Trp429Cys)
NM_001814.6(CTSC):c.380A>C (p.His127Pro)
NM_001814.6(CTSC):c.628C>T (p.Arg210Ter)
NM_001814.6(CTSC):c.755A>T (p.Gln252Leu) rs104894207
NM_001814.6(CTSC):c.856C>T (p.Gln286Ter)
NM_001814.6(CTSC):c.890-1G>A
NM_001814.6(CTSC):c.901G>A (p.Gly301Ser)
NM_001814.6(CTSC):c.96T>G (p.Tyr32Ter)
NM_002872.5(RAC2):c.169G>A (p.Asp57Asn) rs74315507
NM_018389.5(SLC35C1):c.439C>T (p.Arg147Cys) rs28939087
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018389.5(SLC35C1):c.91G>T (p.Glu31Ter) rs398124345
NM_018389.5(SLC35C1):c.923C>G (p.Thr308Arg) rs28937886
NM_031471.6(FERMT3):c.1525C>T (p.Arg509Ter) rs121918295
NM_031471.6(FERMT3):c.161-2A>C rs1286499329
NM_031471.6(FERMT3):c.1671-2A>G rs2134903776
NM_031471.6(FERMT3):c.48G>A (p.Trp16Ter) rs121918296
NM_031471.6(FERMT3):c.687G>A (p.Trp229Ter) rs121918298

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