ClinVar Miner

List of variants reported as uncertain significance for Granulomatous disease, chronic, X-linked by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000397.4(CYBB):c.1340A>T (p.Asp447Val) rs781944350 0.00007
NM_000397.4(CYBB):c.1249G>A (p.Ala417Thr) rs782094658 0.00002
NM_000397.4(CYBB):c.1675C>T (p.Arg559Trp) rs760298475 0.00002
NM_000397.4(CYBB):c.455A>G (p.Tyr152Cys) rs1569479293 0.00002
NM_000397.4(CYBB):c.662T>C (p.Ile221Thr) rs782096963 0.00002
NM_000397.4(CYBB):c.1181C>T (p.Ala394Val) rs1159898408 0.00001
NM_000397.4(CYBB):c.1189G>T (p.Asp397Tyr) rs1556471167 0.00001
NM_000397.4(CYBB):c.1286A>G (p.Asn429Ser) rs781879934 0.00001
NM_000397.4(CYBB):c.1295C>T (p.Thr432Ile) rs782510554 0.00001
NM_000397.4(CYBB):c.1314+6T>A rs781915760 0.00001
NM_000397.4(CYBB):c.218G>A (p.Arg73Gln) rs781887034 0.00001
NM_000397.4(CYBB):c.542T>C (p.Val181Ala) rs1929299081 0.00001
NM_000397.4(CYBB):c.772C>G (p.Pro258Ala) rs1384465552 0.00001
NM_000397.4(CYBB):c.812A>C (p.Lys271Thr) rs1157274812 0.00001
NC_000023.11:g.(?_37780009)_(37810937_?)dup
NC_000023.11:g.37780011T>G
NM_000397.4(CYBB):c.1060C>T (p.His354Tyr)
NM_000397.4(CYBB):c.1073T>C (p.Val358Ala)
NM_000397.4(CYBB):c.1078G>C (p.Asp360His)
NM_000397.4(CYBB):c.1085C>A (p.Thr362Lys) rs1569479953
NM_000397.4(CYBB):c.118T>A (p.Phe40Ile)
NM_000397.4(CYBB):c.1207G>T (p.Val403Leu)
NM_000397.4(CYBB):c.1241C>A (p.Thr414Lys)
NM_000397.4(CYBB):c.1249G>T (p.Ala417Ser)
NM_000397.4(CYBB):c.125C>G (p.Thr42Arg)
NM_000397.4(CYBB):c.1291G>A (p.Ala431Thr) rs1929532655
NM_000397.4(CYBB):c.1297A>G (p.Asn433Asp)
NM_000397.4(CYBB):c.1314+5G>A
NM_000397.4(CYBB):c.1336C>T (p.Arg446Trp)
NM_000397.4(CYBB):c.1370TGC[1] (p.Leu458del) rs1929562453
NM_000397.4(CYBB):c.1376A>G (p.Gln459Arg)
NM_000397.4(CYBB):c.1406A>C (p.Asn469Thr) rs1556471672
NM_000397.4(CYBB):c.1406A>G (p.Asn469Ser) rs1556471672
NM_000397.4(CYBB):c.1411G>A (p.Ala471Thr)
NM_000397.4(CYBB):c.1424G>C (p.Ser475Thr) rs2146819056
NM_000397.4(CYBB):c.1441A>C (p.Thr481Pro)
NM_000397.4(CYBB):c.1461+6G>T
NM_000397.4(CYBB):c.1466A>G (p.Asn489Ser) rs2146821107
NM_000397.4(CYBB):c.1469A>C (p.His490Pro) rs1929629245
NM_000397.4(CYBB):c.1481A>G (p.His494Arg) rs2146821126
NM_000397.4(CYBB):c.1531T>C (p.Tyr511His)
NM_000397.4(CYBB):c.1532A>G (p.Tyr511Cys)
NM_000397.4(CYBB):c.1537C>T (p.Arg513Trp)
NM_000397.4(CYBB):c.1579C>T (p.His527Tyr) rs1602185789
NM_000397.4(CYBB):c.1587-1G>C rs2146822010
NM_000397.4(CYBB):c.1587-6_1606del rs2146821997
NM_000397.4(CYBB):c.1597G>A (p.Gly533Arg)
NM_000397.4(CYBB):c.1637T>C (p.Leu546Pro) rs151344492
NM_000397.4(CYBB):c.1645C>G (p.Gln549Glu)
NM_000397.4(CYBB):c.1681G>C (p.Val561Leu) rs766756667
NM_000397.4(CYBB):c.17T>C (p.Val6Ala)
NM_000397.4(CYBB):c.187A>C (p.Asn63His) rs1928999111
NM_000397.4(CYBB):c.195G>T (p.Met65Ile)
NM_000397.4(CYBB):c.19A>C (p.Asn7His)
NM_000397.4(CYBB):c.251C>T (p.Ala84Val) rs944314548
NM_000397.4(CYBB):c.252G>C (p.Ala84=)
NM_000397.4(CYBB):c.260C>T (p.Ser87Leu)
NM_000397.4(CYBB):c.268G>T (p.Val90Phe) rs1929208228
NM_000397.4(CYBB):c.291T>G (p.Asn97Lys) rs2146809294
NM_000397.4(CYBB):c.322A>G (p.Ile108Val) rs1602178410
NM_000397.4(CYBB):c.325G>A (p.Ala109Thr)
NM_000397.4(CYBB):c.32C>T (p.Ser11Phe)
NM_000397.4(CYBB):c.336T>A (p.Ser112=) rs1447228298
NM_000397.4(CYBB):c.336T>C (p.Ser112=) rs1447228298
NM_000397.4(CYBB):c.355_356delinsAC (p.His119Thr) rs2146810227
NM_000397.4(CYBB):c.405T>A (p.Asp135Glu) rs1419331434
NM_000397.4(CYBB):c.43A>T (p.Ile15Phe) rs781809179
NM_000397.4(CYBB):c.45+3A>C rs1602173466
NM_000397.4(CYBB):c.46-14T>G
NM_000397.4(CYBB):c.536G>A (p.Gly179Glu)
NM_000397.4(CYBB):c.620A>G (p.Tyr207Cys)
NM_000397.4(CYBB):c.649A>C (p.Ile217Leu) rs1556468392
NM_000397.4(CYBB):c.650T>C (p.Ile217Thr)
NM_000397.4(CYBB):c.670G>T (p.Ala224Ser)
NM_000397.4(CYBB):c.674+6T>C rs2146811888
NM_000397.4(CYBB):c.674+6T>G rs2146811888
NM_000397.4(CYBB):c.725C>G (p.Thr242Arg)
NM_000397.4(CYBB):c.766G>A (p.Glu256Lys)
NM_000397.4(CYBB):c.787G>T (p.Ala263Ser)
NM_000397.4(CYBB):c.802A>G (p.Met268Val) rs1929379839
NM_000397.4(CYBB):c.805A>G (p.Thr269Ala) rs1569479706
NM_000397.4(CYBB):c.838T>C (p.Tyr280His)
NM_000397.4(CYBB):c.841C>A (p.Leu281Ile)
NM_000397.4(CYBB):c.867G>T (p.Trp289Cys) rs1929434069
NM_000397.4(CYBB):c.897+6G>A
NM_000397.4(CYBB):c.924C>G (p.Ile308Met) rs782150170
NM_000397.4(CYBB):c.946G>C (p.Gly316Arg) rs1602183141
NM_000397.4(CYBB):c.956T>C (p.Met319Thr)
NM_000397.4(CYBB):c.964G>A (p.Gly322Arg)
NM_000397.4(CYBB):c.997T>C (p.Ser333Pro) rs151344469

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