ClinVar Miner

List of variants reported as uncertain significance for Neutrophil immunodeficiency syndrome

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_002872.5(RAC2):c.545C>T (p.Thr182Met) rs141308774 0.00012
NM_002872.5(RAC2):c.571C>T (p.Leu191Phe) rs755097815 0.00006
NM_002872.5(RAC2):c.229G>A (p.Val77Ile) rs578052035 0.00002
NM_002872.5(RAC2):c.281G>A (p.Arg94His) rs780585104 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.283G>A (p.Ala95Thr) rs1286584041 0.00001
NM_002872.5(RAC2):c.305G>A (p.Arg102Gln) rs371002273 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.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
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.108-8C>G rs1601672720
NM_002872.5(RAC2):c.10A>G (p.Ile4Val)
NM_002872.5(RAC2):c.175G>T (p.Ala59Ser) rs2145824957
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.225G>A (p.Thr75=)
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+3G>C
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.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+3A>G
NM_002872.5(RAC2):c.363C>A (p.Asp121Glu)
NM_002872.5(RAC2):c.371A>G (p.Asp124Gly)
NM_002872.5(RAC2):c.40G>A (p.Val14Met)
NM_002872.5(RAC2):c.452C>G (p.Ser151Trp)
NM_002872.5(RAC2):c.452C>T (p.Ser151Leu)
NM_002872.5(RAC2):c.47A>G (p.Lys16Arg)
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>T (p.Arg174Trp) rs1926846479
NM_002872.5(RAC2):c.521G>A (p.Arg174Gln)
NM_002872.5(RAC2):c.544A>G (p.Thr182Ala) rs775274909
NM_002872.5(RAC2):c.54C>G (p.Cys18Trp) rs1927395509
NM_002872.5(RAC2):c.559C>T (p.Arg187Cys) rs2145819256
NM_002872.5(RAC2):c.569G>C (p.Ser190Thr)
NM_002872.5(RAC2):c.88G>A (p.Gly30Arg) rs1927394221
NM_002872.5(RAC2):c.97A>G (p.Ile33Val) rs2145831322

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