ClinVar Miner

List of variants reported as likely benign for Atypical hemolytic-uremic syndrome by Genome Diagnostics Laboratory, The Hospital for Sick Children

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His) rs35662416 0.01746
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000186.4(CFH):c.2236+8T>A rs7537967 0.01429
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200 0.01155
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser) rs12097550 0.01068
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571 0.01041
NM_000064.4(C3):c.4457-5C>T rs344554 0.00979
NM_001201550.3(CFHR4):c.228T>C (p.Asp76=) rs145744152 0.00846
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_000064.4(C3):c.3970-8C>T rs11569540 0.00476
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_000064.4(C3):c.4631-9C>T rs116302413 0.00242
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434 0.00183
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_172351.3(CD46):c.285T>C (p.Tyr95=) rs112089594 0.00175
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257 0.00118
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000064.4(C3):c.774-4G>A rs368095422 0.00019
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000186.4(CFH):c.770G>A (p.Arg257His) rs140107330 0.00003
NM_000361.3(THBD):c.1083G>A (p.Glu361=) rs370377519 0.00003
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala) rs140691305 0.00003
NM_000186.4(CFH):c.2946A>G (p.Pro982=) rs553471643 0.00001
NM_000186.4(CFH):c.245-11_245-9dup rs35507625
NM_000186.4(CFH):c.2783-3dup rs748791414
NM_000204.5(CFI):c.329-8del
NM_000204.5(CFI):c.482+6C>A rs79375065
NM_000361.3(THBD):c.1057C>A (p.Pro353Thr)
NM_001201550.3(CFHR4):c.128A>T (p.Tyr43Phe)
NM_005666.4(CFHR2):c.212C>T (p.Thr71Met)
NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys)
NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg) rs141321678
NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)

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.