ClinVar Miner

List of variants reported as pathogenic for atypical hemolytic-uremic syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter) rs138924661 0.00016
NM_000064.4(C3):c.193A>C (p.Lys65Gln) rs539992721 0.00005
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000186.4(CFH):c.157C>T (p.Arg53Cys) rs757785149 0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala) rs460184 0.00001
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
NC_000001.11:g.196706898_196873196del
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) rs1918142335
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer) rs1568212112
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter) rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs) rs1558162157
NM_000186.4(CFH):c.1574G>A (p.Trp525Ter) rs1328357943
NM_000186.4(CFH):c.2397del (p.Glu800fs) rs1131690796
NM_000186.4(CFH):c.2535dup (p.Gln846fs) rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter) rs121913057
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000186.4(CFH):c.3134-2A>G rs1300996807
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) rs1652987369
NM_000186.4(CFH):c.3493+2T>C rs1652989506
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) rs121913051
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer) rs1553273733
NM_000204.5(CFI):c.1149-1G>A
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000204.5(CFI):c.79del (p.Asp27fs)
NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)
NM_003647.3(DGKE):c.301A>T (p.Lys101Ter) rs777787526
NM_003647.3(DGKE):c.447del (p.Lys150fs) rs1906529223
NM_003647.3(DGKE):c.610dup (p.Thr204fs) rs147972030
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_172351.3(CD46):c.350_351dup (p.Glu118fs) rs2102541856
NM_172351.3(CD46):c.404del (p.Gly135fs) rs1571588257
NM_172351.3(CD46):c.476-1G>A rs1441390681
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer) rs1057516191
NM_172351.3(CD46):c.604C>T (p.Leu202Phe) rs750324925
NM_172351.3(CD46):c.714_715del (p.Gln238fs) rs1571616755
NM_172351.3(CD46):c.776del (p.Gly259fs) rs886039868
NM_172351.3(CD46):c.828G>A (p.Trp276Ter) rs1571617647
NM_172351.3(CD46):c.907del (p.Arg303fs)

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.