ClinVar Miner

List of variants studied for Neutrophil immunodeficiency syndrome

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Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_002872.5(RAC2):c.448+37A>G rs9610682 0.41562
NM_002872.5(RAC2):c.477T>C (p.Ala159=) rs1064498 0.22300
NM_002872.5(RAC2):c.81C>G (p.Ala27=) rs2239774 0.15604
NM_002872.5(RAC2):c.107+20T>C rs6000622 0.06966
NM_002872.5(RAC2):c.252C>T (p.Leu84=) rs2230919 0.02042
NM_002872.5(RAC2):c.449-18G>T rs73889256 0.00403
NM_002872.5(RAC2):c.35+16G>A rs200969255 0.00209
NM_002872.5(RAC2):c.501C>T (p.Thr167=) rs79799102 0.00067
NM_002872.5(RAC2):c.226-16C>T rs201500108 0.00046
NM_002872.5(RAC2):c.507C>T (p.Phe169=) rs150782757 0.00029
NM_002872.5(RAC2):c.545C>T (p.Thr182Met) rs141308774 0.00012
NM_002872.5(RAC2):c.147G>A (p.Lys49=) rs140543568 0.00010
NM_002872.5(RAC2):c.448+12G>A rs373971208 0.00008
NM_002872.5(RAC2):c.571C>T (p.Leu191Phe) rs755097815 0.00006
NM_002872.5(RAC2):c.78C>T (p.Asn26=) rs375093215 0.00005
NM_002872.5(RAC2):c.282C>T (p.Arg94=) rs201989515 0.00004
NM_002872.5(RAC2):c.420G>A (p.Pro140=) rs539660525 0.00004
NM_002872.5(RAC2):c.226-18C>T rs776743351 0.00003
NM_002872.5(RAC2):c.561C>T (p.Arg187=) rs201536161 0.00003
NM_002872.5(RAC2):c.192C>T (p.Tyr64=) rs772302068 0.00002
NM_002872.5(RAC2):c.229G>A (p.Val77Ile) rs578052035 0.00002
NM_002872.5(RAC2):c.276C>T (p.Asn92=) rs768931430 0.00002
NM_002872.5(RAC2):c.281G>A (p.Arg94His) rs780585104 0.00002
NM_002872.5(RAC2):c.525C>T (p.Ala175=) rs575699146 0.00002
NM_002872.5(RAC2):c.548G>A (p.Arg183Gln) rs770795800 0.00002
NM_002872.5(RAC2):c.560G>A (p.Arg187His) rs1489649391 0.00002
NM_002872.5(RAC2):c.108-5C>G rs1268302473 0.00001
NM_002872.5(RAC2):c.186G>A (p.Glu62=) rs778182086 0.00001
NM_002872.5(RAC2):c.243C>T (p.Cys81=) rs1380331398 0.00001
NM_002872.5(RAC2):c.283G>A (p.Ala95Thr) rs1286584041 0.00001
NM_002872.5(RAC2):c.289-18C>T rs1927057532 0.00001
NM_002872.5(RAC2):c.305G>A (p.Arg102Gln) rs371002273 0.00001
NM_002872.5(RAC2):c.334C>T (p.Leu112=) rs1927054600 0.00001
NM_002872.5(RAC2):c.348G>A (p.Lys116=) rs777290534 0.00001
NM_002872.5(RAC2):c.363C>T (p.Asp121=) rs771516943 0.00001
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn) rs910521882 0.00001
NM_002872.5(RAC2):c.379G>A (p.Glu127Lys) rs1342981751 0.00001
NM_002872.5(RAC2):c.449-3C>T rs367947647 0.00001
NM_002872.5(RAC2):c.449-9C>T rs1420203399 0.00001
NM_002872.5(RAC2):c.510C>T (p.Asp170=) rs752897291 0.00001
NM_002872.5(RAC2):c.547C>T (p.Arg183Trp) rs138762569 0.00001
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr) rs758461304 0.00001
NM_002872.5(RAC2):c.574C>T (p.Leu192Phe) rs754120892 0.00001
NM_002872.5(RAC2):c.579G>A (p.Ter193=) rs371789770 0.00001
NC_000022.10:g.(?_37622713)_(37640188_?)dup
NC_000022.10:g.(?_37640134)_(37640188_?)del
NM_002872.5(RAC2):c.101C>G (p.Pro34Arg)
NM_002872.5(RAC2):c.108-11G>A
NM_002872.5(RAC2):c.108-19C>T
NM_002872.5(RAC2):c.108-20G>A
NM_002872.5(RAC2):c.108-8C>G rs1601672720
NM_002872.5(RAC2):c.10A>G (p.Ile4Val)
NM_002872.5(RAC2):c.12C>T (p.Ile4=) rs996009169
NM_002872.5(RAC2):c.141C>T (p.Asp47=)
NM_002872.5(RAC2):c.162G>A (p.Gly54=)
NM_002872.5(RAC2):c.169G>A (p.Asp57Asn) rs74315507
NM_002872.5(RAC2):c.175G>T (p.Ala59Ser) rs2145824957
NM_002872.5(RAC2):c.181C>A (p.Gln61Lys)
NM_002872.5(RAC2):c.183G>A (p.Gln61=)
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_002872.5(RAC2):c.187G>A (p.Asp63Asn) rs1927110250
NM_002872.5(RAC2):c.197G>A (p.Arg66His)
NM_002872.5(RAC2):c.202C>T (p.Arg68Trp)
NM_002872.5(RAC2):c.203G>A (p.Arg68Gln) rs1927109339
NM_002872.5(RAC2):c.206C>T (p.Pro69Leu)
NM_002872.5(RAC2):c.207G>A (p.Pro69=) rs755454147
NM_002872.5(RAC2):c.207G>C (p.Pro69=)
NM_002872.5(RAC2):c.225+13C>T
NM_002872.5(RAC2):c.225+16C>T
NM_002872.5(RAC2):c.225G>A (p.Thr75=)
NM_002872.5(RAC2):c.226-10C>G
NM_002872.5(RAC2):c.226-13G>T
NM_002872.5(RAC2):c.226-14T>C
NM_002872.5(RAC2):c.226-17G>A
NM_002872.5(RAC2):c.226-19_226-17del
NM_002872.5(RAC2):c.226-21dup rs11374583
NM_002872.5(RAC2):c.228C>T (p.Asp76=)
NM_002872.5(RAC2):c.249C>T (p.Ser83=)
NM_002872.5(RAC2):c.258C>T (p.Ser86=)
NM_002872.5(RAC2):c.261A>T (p.Pro87=)
NM_002872.5(RAC2):c.264C>G (p.Ala88=)
NM_002872.5(RAC2):c.276C>G (p.Asn92Lys) rs768931430
NM_002872.5(RAC2):c.277G>A (p.Val93Ile)
NM_002872.5(RAC2):c.288+10A>G rs2145824091
NM_002872.5(RAC2):c.288+11C>T
NM_002872.5(RAC2):c.288+11del
NM_002872.5(RAC2):c.288+14G>T
NM_002872.5(RAC2):c.288+15G>C rs1271458258
NM_002872.5(RAC2):c.288+16T>C
NM_002872.5(RAC2):c.288+3G>C
NM_002872.5(RAC2):c.289-6G>T
NM_002872.5(RAC2):c.298G>A (p.Glu100Lys)
NM_002872.5(RAC2):c.304C>T (p.Arg102Trp) rs1415916204
NM_002872.5(RAC2):c.317C>G (p.Pro106Arg)
NM_002872.5(RAC2):c.31G>A (p.Asp11Asn) rs1601679010
NM_002872.5(RAC2):c.328A>G (p.Ile110Val) rs1248326902
NM_002872.5(RAC2):c.32A>T (p.Asp11Val) rs1445302825
NM_002872.5(RAC2):c.333C>A (p.Ile111=)
NM_002872.5(RAC2):c.340G>C (p.Gly114Arg)
NM_002872.5(RAC2):c.347A>G (p.Lys116Arg) rs978951259
NM_002872.5(RAC2):c.349C>A (p.Leu117Met)
NM_002872.5(RAC2):c.35+15G>T rs748808662
NM_002872.5(RAC2):c.35+20T>C
NM_002872.5(RAC2):c.35+20T>G rs747917580
NM_002872.5(RAC2):c.35+3A>G
NM_002872.5(RAC2):c.36-16A>G
NM_002872.5(RAC2):c.36-18G>A
NM_002872.5(RAC2):c.363C>A (p.Asp121Glu)
NM_002872.5(RAC2):c.369G>A (p.Lys123=)
NM_002872.5(RAC2):c.371A>G (p.Asp124Gly)
NM_002872.5(RAC2):c.378C>T (p.Ile126=)
NM_002872.5(RAC2):c.40G>A (p.Val14Met)
NM_002872.5(RAC2):c.426C>T (p.Gly142=)
NM_002872.5(RAC2):c.427C>T (p.Leu143=)
NM_002872.5(RAC2):c.432A>C (p.Ala144=)
NM_002872.5(RAC2):c.448+11C>T rs530853255
NM_002872.5(RAC2):c.448+18A>C
NM_002872.5(RAC2):c.448+25C>G rs9610683
NM_002872.5(RAC2):c.448+7G>T
NM_002872.5(RAC2):c.449-15C>T
NM_002872.5(RAC2):c.450C>T (p.Asp150=) rs781040687
NM_002872.5(RAC2):c.452C>G (p.Ser151Trp)
NM_002872.5(RAC2):c.452C>T (p.Ser151Leu)
NM_002872.5(RAC2):c.45C>T (p.Gly15=)
NM_002872.5(RAC2):c.474A>G (p.Ser158=) rs1195995740
NM_002872.5(RAC2):c.47A>G (p.Lys16Arg)
NM_002872.5(RAC2):c.483C>T (p.Thr161=) rs1601667909
NM_002872.5(RAC2):c.501C>G (p.Thr167=)
NM_002872.5(RAC2):c.511G>A (p.Glu171Lys) rs561547070
NM_002872.5(RAC2):c.517A>C (p.Ile173Leu) rs2145819300
NM_002872.5(RAC2):c.520C>A (p.Arg174=)
NM_002872.5(RAC2):c.520C>T (p.Arg174Trp) rs1926846479
NM_002872.5(RAC2):c.521G>A (p.Arg174Gln)
NM_002872.5(RAC2):c.522G>A (p.Arg174=)
NM_002872.5(RAC2):c.525C>G (p.Ala175=)
NM_002872.5(RAC2):c.528G>A (p.Val176=) rs2145819292
NM_002872.5(RAC2):c.544A>G (p.Thr182Ala) rs775274909
NM_002872.5(RAC2):c.546G>A (p.Thr182=)
NM_002872.5(RAC2):c.547C>A (p.Arg183=)
NM_002872.5(RAC2):c.54C>G (p.Cys18Trp) rs1927395509
NM_002872.5(RAC2):c.54C>T (p.Cys18=)
NM_002872.5(RAC2):c.559C>T (p.Arg187Cys) rs2145819256
NM_002872.5(RAC2):c.567C>T (p.Cys189=)
NM_002872.5(RAC2):c.569G>C (p.Ser190Thr)
NM_002872.5(RAC2):c.75C>T (p.Thr25=)
NM_002872.5(RAC2):c.81C>A (p.Ala27=) rs2239774
NM_002872.5(RAC2):c.87C>T (p.Pro29=)
NM_002872.5(RAC2):c.88G>A (p.Gly30Arg) rs1927394221
NM_002872.5(RAC2):c.97A>G (p.Ile33Val) rs2145831322

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