ClinVar Miner

List of variants in gene CFB studied for atypical hemolytic-uremic syndrome

Included ClinVar conditions (17):
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Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001710.6(CFB):c.2140-74A>G rs2072633 0.58857
NM_001710.6(CFB):c.*23C>T rs4151672 0.03305
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) rs4151659 0.01851
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala) rs45484591 0.00913
NM_001710.6(CFB):c.1953T>G (p.Asp651Glu) rs4151660 0.00673
NM_001710.6(CFB):c.600C>T (p.Ser200=) rs113197809 0.00527
NM_001710.6(CFB):c.1778+9G>A rs188688680 0.00301
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_001710.6(CFB):c.*47C>T rs375895797 0.00052
NM_001710.6(CFB):c.658+7T>C rs541260302 0.00049
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_001710.6(CFB):c.2100C>T (p.Gly700=) rs116928087 0.00017
NM_001710.6(CFB):c.291G>A (p.Glu97=) rs138236643 0.00014
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_001710.6(CFB):c.1548G>A (p.Val516=) rs553118090 0.00005
NM_001710.6(CFB):c.1778+8C>T rs148298609 0.00005
NM_001710.6(CFB):c.1374G>A (p.Met458Ile) rs200837114 0.00004
NM_001710.6(CFB):c.274A>T (p.Thr92Ser) rs369638886 0.00004
NM_001710.6(CFB):c.604C>T (p.Arg202Trp) rs537478097 0.00004
NM_001710.6(CFB):c.*16A>T rs749158582 0.00003
NM_001710.6(CFB):c.-3G>A rs755016493 0.00003
NM_001710.6(CFB):c.1227A>G (p.Leu409=) rs761050063 0.00003
NM_001710.6(CFB):c.1593T>C (p.Asp531=) rs886061296 0.00003
NM_001710.6(CFB):c.321C>T (p.His107=) rs767428982 0.00003
NM_001710.6(CFB):c.1290C>T (p.Val430=) rs201619743 0.00002
NM_001710.6(CFB):c.720G>A (p.Glu240=) rs753831049 0.00002
NM_001710.6(CFB):c.118G>A (p.Glu40Lys) rs1271096223 0.00001
NM_001710.6(CFB):c.1217G>A (p.Arg406Gln) rs1057516209 0.00001
NM_001710.6(CFB):c.1762T>C (p.Tyr588His) rs1364257553 0.00001
NM_001710.6(CFB):c.1861G>A (p.Glu621Lys) rs573842877 0.00001
NM_001710.6(CFB):c.1956+10G>A rs545348156 0.00001
NM_001710.6(CFB):c.427C>T (p.Arg143Cys) rs1242945827 0.00001
NM_001710.6(CFB):c.503C>T (p.Pro168Leu) rs779024832 0.00001
NM_001710.6(CFB):c.507C>T (p.Gly169=) rs990116233 0.00001
NM_001710.6(CFB):c.917A>G (p.Lys306Arg) rs374738591 0.00001
NM_001710.5(CFB):c.-186delG rs796979529
NM_001710.5(CFB):c.-199T>C rs1771399314
NM_001710.6(CFB):c.1037-10C>G rs201659953
NM_001710.6(CFB):c.1037-10C>T rs201659953
NM_001710.6(CFB):c.1524C>A (p.His508Gln) rs138207668
NM_001710.6(CFB):c.1803G>A (p.Glu601=) rs377025675
NM_001710.6(CFB):c.1889C>T (p.Ala630Val) rs886061297
NM_001710.6(CFB):c.2023G>A (p.Val675Met)
NM_001710.6(CFB):c.2069C>T (p.Ala690Val) rs1403720810
NM_001710.6(CFB):c.334G>C (p.Gly112Arg) rs950175817
NM_001710.6(CFB):c.656A>T (p.Gln219Leu) rs886061295
NM_001710.6(CFB):c.713T>G (p.Leu238Arg)
NM_001710.6(CFB):c.858C>G (p.Phe286Leu) rs117905900
NM_001710.6(CFB):c.967A>G (p.Lys323Glu) rs121909748
NM_001710.6(CFB):c.978A>G (p.Glu326=)
NM_001710.6(CFB):c.981A>T (p.Ala327=)

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