ClinVar Miner

List of variants reported as likely pathogenic for phagocytic cell dysfunction

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000250.2(MPO):c.1705C>T (p.Arg569Trp) rs119468010 0.00173
NM_000265.7(NCF1):c.269G>A (p.Arg90His) rs201802880 0.00110
NM_000265.7(NCF1):c.579G>A (p.Trp193Ter) rs145360423 0.00054
NM_000178.4(GSS):c.373C>T (p.Arg125Cys) rs28936396 0.00029
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000250.2(MPO):c.249-2A>G rs762526880 0.00012
NM_000631.5(NCF4):c.758+50C>T rs201021542 0.00011
NM_000101.4(CYBA):c.268C>T (p.Arg90Trp) rs179363892 0.00006
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000178.4(GSS):c.799C>T (p.Arg267Trp) rs121909308 0.00002
NM_000631.5(NCF4):c.529-2A>T rs199890705 0.00002
NM_000101.4(CYBA):c.287+2T>C rs747774702 0.00001
NM_000101.4(CYBA):c.369+1G>A rs905944088 0.00001
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg) rs28941476 0.00001
NM_000178.4(GSS):c.1252C>T (p.Arg418Ter) rs1486049191 0.00001
NM_000178.4(GSS):c.127G>T (p.Glu43Ter) rs2519043780 0.00001
NM_000178.4(GSS):c.656A>G (p.Asp219Gly) rs28938472 0.00001
NM_000178.4(GSS):c.706C>T (p.Arg236Ter) rs765110067 0.00001
NM_000178.4(GSS):c.709C>T (p.Arg237Ter) rs201925123 0.00001
NM_000178.4(GSS):c.809A>G (p.Tyr270Cys) rs1325986563 0.00001
NM_000397.4(CYBB):c.1223G>C (p.Gly408Ala) rs151344474 0.00001
NM_000397.4(CYBB):c.1244C>G (p.Pro415Arg) rs137854585 0.00001
NM_000433.4(NCF2):c.1026G>A (p.Lys342=) rs1459123494 0.00001
NM_000433.4(NCF2):c.1178+1G>A rs1352107832 0.00001
NM_000433.4(NCF2):c.1180T>G (p.Tyr394Asp) rs749606885 0.00001
NM_000433.4(NCF2):c.605C>T (p.Ala202Val) rs137854508 0.00001
NM_000433.4(NCF2):c.609+2T>C rs1672642650 0.00001
NM_001098426.2(SMARCD2):c.391C>T (p.Gln131Ter) rs2040280183 0.00001
NC_000001.11:g.(?_183577579)_(183577727_?)dup
NC_000007.13:g.(74188451_74191612)_(74193769_74195125)dup
NC_000016.9:g.(?_88709946)_(88713408_?)del
NC_000022.11:g.36864921_36864935del rs1200078508
NC_000023.10:g.(?_37641330)_(37641446_?)del
NC_000023.11:g.(?_37810771)_(37810937_?)del
NM_000101.4(CYBA):c.128+2T>C rs1191361764
NM_000101.4(CYBA):c.129-1G>T rs1445023836
NM_000101.4(CYBA):c.166del (p.Arg56fs) rs1352931329
NM_000101.4(CYBA):c.203+102_404del
NM_000101.4(CYBA):c.203+1G>A
NM_000101.4(CYBA):c.268C>G (p.Arg90Gly) rs179363892
NM_000101.4(CYBA):c.269G>A (p.Arg90Gln) rs104894513
NM_000101.4(CYBA):c.269G>C (p.Arg90Pro)
NM_000101.4(CYBA):c.287+2_287+3del rs2142875237
NM_000101.4(CYBA):c.288-1G>A rs111571762
NM_000101.4(CYBA):c.288-1G>T rs111571762
NM_000101.4(CYBA):c.288-3_300del rs1567608830
NM_000101.4(CYBA):c.295_301del (p.Val99fs) rs2507528036
NM_000101.4(CYBA):c.345del (p.Ile116fs) rs2142873834
NM_000101.4(CYBA):c.354C>A (p.Ser118Arg) rs104894514
NM_000101.4(CYBA):c.369+2T>A
NM_000101.4(CYBA):c.385G>T (p.Glu129Ter) rs1246768740
NM_000101.4(CYBA):c.467dup (p.Pro157fs) rs2507521330
NM_000101.4(CYBA):c.472_484del (p.Pro160fs) rs1272232395
NM_000101.4(CYBA):c.58+2T>C rs2507541256
NM_000101.4(CYBA):c.58+6_58+15del
NM_000178.3(GSS):c.1113_1132del20 rs2147120336
NM_000178.4(GSS):c.1030-1G>C rs2081400664
NM_000178.4(GSS):c.110_119del (p.Gln37fs)
NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del) rs770455024
NM_000178.4(GSS):c.1142del (p.Gln381fs)
NM_000178.4(GSS):c.1192dup (p.Met398fs) rs2519016906
NM_000178.4(GSS):c.1227C>A (p.Cys409Ter) rs2081381650
NM_000178.4(GSS):c.130-1G>C rs2519036640
NM_000178.4(GSS):c.1416C>A (p.Tyr472Ter)
NM_000178.4(GSS):c.275+1G>A rs2519036298
NM_000178.4(GSS):c.275+2T>G
NM_000178.4(GSS):c.351+1G>C rs773779413
NM_000178.4(GSS):c.421A>T (p.Lys141Ter)
NM_000178.4(GSS):c.490C>T (p.Arg164Ter) rs773018519
NM_000178.4(GSS):c.4del (p.Ala2fs) rs752560204
NM_000178.4(GSS):c.574del (p.Ile192fs) rs757968278
NM_000178.4(GSS):c.609-2A>C rs2519026756
NM_000178.4(GSS):c.656A>C (p.Asp219Ala) rs28938472
NM_000178.4(GSS):c.768-2A>C
NM_000178.4(GSS):c.820C>T (p.Gln274Ter)
NM_000250.2(MPO):c.1281del (p.Thr428fs) rs762933005
NM_000250.2(MPO):c.1555_1568del (p.Met519fs) rs536522394
NM_000250.2(MPO):c.1711C>T (p.Arg571Ter) rs773478778
NM_000250.2(MPO):c.402G>A (p.Trp134Ter) rs1970491995
NM_000250.2(MPO):c.817dup (p.Ala273fs)
NM_000250.2(MPO):c.[1281del];[518A>G]
NM_000250.2(MPO):c.[2031-2A>C];[752T>C]
NM_000265.7(NCF1):c.285_288dup (p.Tyr97fs) rs1584370623
NM_000265.7(NCF1):c.604C>T (p.Arg202Ter)
NM_000397.4(CYBB):c.1027A>C (p.Thr343Pro)
NM_000397.4(CYBB):c.1081T>A (p.Trp361Arg) rs2519208804
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile) rs1569479953
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) rs1602183244
NM_000397.4(CYBB):c.1140dup (p.Lys381fs) rs193922445
NM_000397.4(CYBB):c.1152-1G>A rs1929527785
NM_000397.4(CYBB):c.1165G>A (p.Gly389Arg) rs1556471150
NM_000397.4(CYBB):c.1237dup (p.Val413fs) rs1569480031
NM_000397.4(CYBB):c.1385A>C (p.Glu462Ala) rs2519211098
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer) rs193922446
NM_000397.4(CYBB):c.160A>G (p.Arg54Gly) rs932660228
NM_000397.4(CYBB):c.1610G>T (p.Cys537Phe) rs2519214389
NM_000397.4(CYBB):c.1618del (p.Glu540fs) rs1556473078
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter) rs2146822029
NM_000397.4(CYBB):c.169G>T (p.Ala57Ser) rs1928998515
NM_000397.4(CYBB):c.252+5G>C rs1602175016
NM_000397.4(CYBB):c.253-8A>G rs1064793093
NM_000397.4(CYBB):c.301C>T (p.His101Tyr) rs137854594
NM_000397.4(CYBB):c.424T>C (p.Ser142Pro) rs2146810272
NM_000397.4(CYBB):c.45+2del rs1602173465
NM_000397.4(CYBB):c.483+3A>T
NM_000397.4(CYBB):c.483+5G>A rs1929245964
NM_000397.4(CYBB):c.483G>A (p.Lys161=) rs2519200090
NM_000397.4(CYBB):c.536G>A (p.Gly179Glu) rs2519201935
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter) rs193922449
NM_000397.4(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000397.4(CYBB):c.667_668delinsTT (p.Gly223Leu)
NM_000397.4(CYBB):c.66C>A (p.Asn22Lys) rs193922450
NM_000397.4(CYBB):c.785T>G (p.Phe262Cys) rs2146813757
NM_000433.4(NCF2):c.1000+1G>A rs2102887348
NM_000433.4(NCF2):c.1026+1G>C rs1558092897
NM_000433.4(NCF2):c.1098_1099del (p.Gln367fs)
NM_000433.4(NCF2):c.1120C>T (p.Gln374Ter) rs1572151178
NM_000433.4(NCF2):c.1162G>T (p.Glu388Ter) rs1349405769
NM_000433.4(NCF2):c.1174del (p.Lys391_Leu392insTer)
NM_000433.4(NCF2):c.1178+1G>T
NM_000433.4(NCF2):c.1270_1271del (p.Leu424fs)
NM_000433.4(NCF2):c.1438del (p.Glu480fs) rs2102875639
NM_000433.4(NCF2):c.196_197insA (p.Arg66fs)
NM_000433.4(NCF2):c.257+1G>A rs990043411
NM_000433.4(NCF2):c.290C>A (p.Ala97Asp) rs755222977
NM_000433.4(NCF2):c.298C>T (p.Gln100Ter) rs119103276
NM_000433.4(NCF2):c.367-1G>A rs759285400
NM_000433.4(NCF2):c.375_376del (p.Tyr125_Asn126delinsTer) rs2527964759
NM_000433.4(NCF2):c.417del (p.Ala140fs) rs2527964515
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter) rs2527963676
NM_000433.4(NCF2):c.609+1G>A rs2102903043
NM_000433.4(NCF2):c.669+1G>A rs2102898304
NM_000433.4(NCF2):c.714-2A>G rs2527930725
NM_000433.4(NCF2):c.855G>C (p.Gln285His)
NM_000433.4(NCF2):c.925-2A>G rs771126735
NM_000631.5(NCF4):c.270_271+16del rs1939893821
NM_000631.5(NCF4):c.32+2T>C
NM_000631.5(NCF4):c.33-1G>A rs2145702588
NM_000631.5(NCF4):c.3G>A (p.Met1Ile)
NM_000631.5(NCF4):c.470+2T>G
NM_000631.5(NCF4):c.471-1G>A rs867575163
NM_000631.5(NCF4):c.614_615del (p.Lys205fs) rs757106743
NM_001098426.2(SMARCD2):c.568-1G>C rs112986541
NM_001098426.2(SMARCD2):c.574C>T (p.Arg192Ter) rs758123382
NM_001098426.2(SMARCD2):c.654del (p.Gly220fs) rs2144630306
NM_001805.4(CEBPE):c.653T>C (p.Val218Ala) rs747524697

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