ClinVar Miner

List of variants reported as likely benign for atypical hemolytic uremic syndrome with complement gene abnormality by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667 0.03314
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394 0.00391
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_172351.3(CD46):c.796G>A (p.Asp266Asn) rs17006830 0.00369
NM_172351.3(CD46):c.861G>A (p.Ser287=) rs17006843 0.00368
NM_001710.6(CFB):c.858C>T (p.Phe286=) rs117905900 0.00285
NM_172351.3(CD46):c.-11C>A rs74477032 0.00262
NM_172351.3(CD46):c.926C>T (p.Pro309Leu) rs41317833 0.00241
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657 0.00237
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_000204.5(CFI):c.916A>G (p.Ile306Val) rs113273712 0.00164
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000204.5(CFI):c.1657C>T (p.Pro553Ser) rs113460688 0.00134
NM_000361.3(THBD):c.*158G>A rs3176121 0.00118
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys) rs41400249 0.00036
NM_000064.4(C3):c.4827C>T (p.Ser1609=) rs150537373 0.00035
NM_000064.4(C3):c.4824C>T (p.Ser1608=) rs139457470 0.00034
NM_000361.3(THBD):c.-12C>T rs370548660 0.00026
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00019
NM_000064.4(C3):c.2157G>A (p.Ala719=) rs143671993 0.00016
NM_000361.3(THBD):c.*325T>C rs186669520 0.00014
NM_001710.6(CFB):c.291G>A (p.Glu97=) rs138236643 0.00014
NM_000064.4(C3):c.681C>T (p.Tyr227=) rs756694755 0.00012
NM_000063.6(C2):c.1577A>G (p.Lys526Arg) rs146054348 0.00011
NM_000064.4(C3):c.4535G>A (p.Arg1512His) rs142868256 0.00009
NM_000064.4(C3):c.2207G>A (p.Arg736Gln) rs578116271 0.00007
NM_001710.6(CFB):c.1838C>T (p.Thr613Ile) rs201754399 0.00007
NM_001710.6(CFB):c.784G>A (p.Val262Ile) rs200645483 0.00007
NM_000064.4(C3):c.1098A>G (p.Pro366=) rs757883156 0.00006
NM_000064.4(C3):c.1119+10G>A rs752328639 0.00006
NM_000064.4(C3):c.1164C>T (p.Pro388=) rs769368306 0.00006
NM_000204.5(CFI):c.129C>T (p.Cys43=) rs146462954 0.00006
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg) rs769873702 0.00005
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp) rs140928439 0.00005
NM_000204.5(CFI):c.57+4A>G rs757464411 0.00005
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) rs537478097 0.00004
NM_000204.5(CFI):c.309C>T (p.Asn103=) rs761425840 0.00003
NM_000361.3(THBD):c.1083G>A (p.Glu361=) rs370377519 0.00003
NM_001710.6(CFB):c.720G>A (p.Glu240=) rs753831049 0.00002
NM_000064.4(C3):c.1296G>A (p.Ser432=) rs760150621 0.00001
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser) rs746985605 0.00001
NM_000064.4(C3):c.4850+12C>A rs748416799 0.00001
NM_000064.4(C3):c.4941G>A (p.Gln1647=) rs780251209 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000361.3(THBD):c.920C>T (p.Ser307Leu) rs372556297 0.00001
NM_000064.4(C3):c.4645C>T (p.Leu1549=) rs149202905

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