ClinVar Miner

List of variants in gene CYBB reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
Download table as spreadsheet
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.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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.