ClinVar Miner

List of variants in gene CFHR5 reported as uncertain significance for primary membranoproliferative glomerulonephritis

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_030787.4(CFHR5):c.1331-2A>G rs148301128 0.00006
NM_030787.4(CFHR5):c.1304G>A (p.Arg435Gln) rs776538115 0.00005
NM_030787.4(CFHR5):c.665T>C (p.Ile222Thr) rs780116839 0.00004
NM_030787.4(CFHR5):c.1289T>C (p.Val430Ala) rs781262039 0.00002
NM_030787.4(CFHR5):c.253A>G (p.Arg85Gly) rs372885376 0.00001
NM_030787.4(CFHR5):c.*416GA[5] rs886045755
NM_030787.4(CFHR5):c.-76_-75del rs551454946
NM_030787.4(CFHR5):c.1004G>A (p.Gly335Glu)
NM_030787.4(CFHR5):c.1060A>G (p.Arg354Gly)
NM_030787.4(CFHR5):c.1118G>A (p.Gly373Glu)
NM_030787.4(CFHR5):c.111A>T (p.Glu37Asp)
NM_030787.4(CFHR5):c.1153dup (p.Arg385fs)
NM_030787.4(CFHR5):c.1165T>C (p.Cys389Arg)
NM_030787.4(CFHR5):c.1172C>T (p.Pro391Leu)
NM_030787.4(CFHR5):c.1193C>G (p.Ala398Gly)
NM_030787.4(CFHR5):c.1197G>C (p.Gln399His)
NM_030787.4(CFHR5):c.1241C>G (p.Ala414Gly)
NM_030787.4(CFHR5):c.1267C>T (p.Leu423Phe)
NM_030787.4(CFHR5):c.127dup (p.Ser43fs)
NM_030787.4(CFHR5):c.130C>T (p.Gln44Ter)
NM_030787.4(CFHR5):c.1321C>T (p.Arg441Cys)
NM_030787.4(CFHR5):c.1330G>A (p.Glu444Lys)
NM_030787.4(CFHR5):c.1357C>G (p.Pro453Ala)
NM_030787.4(CFHR5):c.1381A>C (p.Thr461Pro)
NM_030787.4(CFHR5):c.1396T>A (p.Ser466Thr)
NM_030787.4(CFHR5):c.1399G>A (p.Val467Ile)
NM_030787.4(CFHR5):c.1400dup (p.Tyr468fs)
NM_030787.4(CFHR5):c.1410A>C (p.Pro470=)
NM_030787.4(CFHR5):c.1424C>T (p.Thr475Met)
NM_030787.4(CFHR5):c.1436A>G (p.Gln479Arg)
NM_030787.4(CFHR5):c.1436A>T (p.Gln479Leu)
NM_030787.4(CFHR5):c.1453C>T (p.Gln485Ter)
NM_030787.4(CFHR5):c.1508G>A (p.Cys503Tyr)
NM_030787.4(CFHR5):c.1514-2A>G
NM_030787.4(CFHR5):c.1528T>C (p.Ser510Pro)
NM_030787.4(CFHR5):c.1591G>T (p.Ala531Ser)
NM_030787.4(CFHR5):c.1600G>A (p.Gly534Arg)
NM_030787.4(CFHR5):c.1603G>A (p.Asp535Asn)
NM_030787.4(CFHR5):c.1604A>G (p.Asp535Gly)
NM_030787.4(CFHR5):c.1607C>T (p.Ala536Val)
NM_030787.4(CFHR5):c.160T>A (p.Ser54Thr)
NM_030787.4(CFHR5):c.1615T>G (p.Phe539Val)
NM_030787.4(CFHR5):c.1640C>T (p.Ala547Val)
NM_030787.4(CFHR5):c.1651T>C (p.Ser551Pro)
NM_030787.4(CFHR5):c.1678G>A (p.Glu560Lys)
NM_030787.4(CFHR5):c.1697C>T (p.Pro566Leu)
NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val)
NM_030787.4(CFHR5):c.1708T>C (p.Ter570Arg)
NM_030787.4(CFHR5):c.215G>A (p.Cys72Tyr)
NM_030787.4(CFHR5):c.254-7T>A
NM_030787.4(CFHR5):c.271T>C (p.Phe91Leu)
NM_030787.4(CFHR5):c.295del (p.Ser99fs)
NM_030787.4(CFHR5):c.310C>T (p.His104Tyr)
NM_030787.4(CFHR5):c.349G>A (p.Gly117Arg)
NM_030787.4(CFHR5):c.361del (p.Gln121fs)
NM_030787.4(CFHR5):c.376A>C (p.Asn126His)
NM_030787.4(CFHR5):c.385T>C (p.Cys129Arg)
NM_030787.4(CFHR5):c.394C>T (p.Arg132Trp)
NM_030787.4(CFHR5):c.430+4A>G
NM_030787.4(CFHR5):c.437A>G (p.Glu146Gly)
NM_030787.4(CFHR5):c.491G>A (p.Ser164Asn)
NM_030787.4(CFHR5):c.493T>C (p.Tyr165His)
NM_030787.4(CFHR5):c.514A>C (p.Lys172Gln)
NM_030787.4(CFHR5):c.525C>G (p.Cys175Trp)
NM_030787.4(CFHR5):c.535C>A (p.Leu179Ile)
NM_030787.4(CFHR5):c.542G>C (p.Arg181Thr)
NM_030787.4(CFHR5):c.59-20T>G
NM_030787.4(CFHR5):c.59-2A>C
NM_030787.4(CFHR5):c.599C>A (p.Thr200Lys)
NM_030787.4(CFHR5):c.607+4A>G
NM_030787.4(CFHR5):c.608-3T>C
NM_030787.4(CFHR5):c.616C>T (p.Arg206Ter)
NM_030787.4(CFHR5):c.61del (p.Thr21fs)
NM_030787.4(CFHR5):c.632C>G (p.Pro211Arg)
NM_030787.4(CFHR5):c.648T>G (p.Asn216Lys)
NM_030787.4(CFHR5):c.652G>T (p.Glu218Ter)
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)
NM_030787.4(CFHR5):c.688A>G (p.Asn230Asp)
NM_030787.4(CFHR5):c.700G>A (p.Glu234Lys)
NM_030787.4(CFHR5):c.749_751del (p.Gln250_Cys251delinsArg)
NM_030787.4(CFHR5):c.759T>G (p.Asp253Glu)
NM_030787.4(CFHR5):c.767G>A (p.Trp256Ter)
NM_030787.4(CFHR5):c.768G>A (p.Trp256Ter)
NM_030787.4(CFHR5):c.76C>T (p.Pro26Ser) rs1653577983
NM_030787.4(CFHR5):c.779C>T (p.Pro260Leu)
NM_030787.4(CFHR5):c.782C>T (p.Thr261Ile)
NM_030787.4(CFHR5):c.789T>A (p.Val263=)
NM_030787.4(CFHR5):c.7C>G (p.Leu3Val)
NM_030787.4(CFHR5):c.875C>T (p.Ser292Leu)
NM_030787.4(CFHR5):c.911T>A (p.Ile304Asn)
NM_030787.4(CFHR5):c.918T>G (p.Asn306Lys)
NM_030787.4(CFHR5):c.942A>T (p.Gly314=)
NM_030787.4(CFHR5):c.973del (p.Thr325fs)
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter) rs751010317

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.