ClinVar Miner

List of variants in gene CFI studied for atypical hemolytic uremic syndrome with complement gene abnormality

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.*112C>T rs551 0.94881
NM_000204.5(CFI):c.804G>A (p.Ser268=) rs2298749 0.30706
NM_001375278.1(CFI):c.1558+1812A>G rs28361433 0.03412
NM_000204.5(CFI):c.884-7T>C rs140555685 0.01504
NM_000204.5(CFI):c.482+14T>A rs76014294 0.01365
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_000204.5(CFI):c.*7G>T rs80173133 0.00861
NM_000204.5(CFI):c.*144T>C rs77449037 0.00857
NM_000204.5(CFI):c.1206C>T (p.Pro402=) rs115780371 0.00646
NM_000204.5(CFI):c.315A>T (p.Thr105=) rs61745205 0.00608
NM_000204.5(CFI):c.1217G>A (p.Arg406His) rs74817407 0.00599
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00190
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_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000204.5(CFI):c.319A>G (p.Thr107Ala) rs201419000 0.00036
NM_000204.5(CFI):c.429C>T (p.Ser143=) rs112492491 0.00034
NM_000204.4(CFI):c.-171G>A rs182477786 0.00026
NM_000204.5(CFI):c.1216C>T (p.Arg406Cys) rs181729783 0.00024
NM_000204.5(CFI):c.719C>G (p.Ala240Gly) rs146444258 0.00024
NM_000204.5(CFI):c.1430-19G>A rs377117137 0.00019
NM_000204.5(CFI):c.1581C>T (p.Gly527=) rs181378677 0.00015
NM_000204.5(CFI):c.608C>T (p.Thr203Ile) rs138346388 0.00015
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00014
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000204.5(CFI):c.338G>A (p.Ser113Asn) rs150610189 0.00012
NM_000204.5(CFI):c.405T>C (p.Asp135=) rs375792874 0.00010
NM_000204.5(CFI):c.705T>C (p.Ile235=) rs373891906 0.00010
NM_000204.5(CFI):c.1410T>C (p.Ser470=) rs200068862 0.00009
NM_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_000204.5(CFI):c.193T>C (p.Tyr65His) rs774783110 0.00008
NM_000204.5(CFI):c.560G>A (p.Arg187Gln) rs143366614 0.00007
NM_000204.5(CFI):c.60C>T (p.Val20=) rs776132010 0.00007
NM_000204.5(CFI):c.129C>T (p.Cys43=) rs146462954 0.00006
NM_000204.5(CFI):c.130G>A (p.Asp44Asn) rs374036714 0.00006
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) rs144082872 0.00006
NM_000204.5(CFI):c.1533A>G (p.Ala511=) rs369715801 0.00006
NM_000204.5(CFI):c.310G>A (p.Gly104Arg) rs200419722 0.00006
NM_000204.5(CFI):c.325G>A (p.Glu109Lys) rs748098641 0.00006
NM_000204.5(CFI):c.482+7G>A rs765922749 0.00006
NM_000204.5(CFI):c.949C>T (p.Arg317Trp) rs121964917 0.00006
NM_000204.5(CFI):c.1044+8C>T rs190420174 0.00005
NM_000204.5(CFI):c.1150G>A (p.Ala384Thr) rs762315947 0.00005
NM_000204.5(CFI):c.57+4A>G rs757464411 0.00005
NM_000204.5(CFI):c.729T>A (p.Gly243=) rs749140698 0.00005
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00004
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000204.5(CFI):c.57+9T>C rs189973137 0.00004
NM_000204.5(CFI):c.603A>C (p.Arg201Ser) rs145769028 0.00004
NM_000204.5(CFI):c.950G>A (p.Arg317Gln) rs751111134 0.00004
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter) rs121964913 0.00003
NM_000204.5(CFI):c.1429+8T>C rs184313022 0.00003
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00003
NM_000204.5(CFI):c.309C>T (p.Asn103=) rs761425840 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000204.5(CFI):c.1063G>A (p.Val355Met) rs1250103299 0.00002
NM_000204.5(CFI):c.1378C>T (p.Leu460=) rs1026187949 0.00002
NM_000204.5(CFI):c.1429G>C (p.Asp477His) rs754972981 0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu) rs771325547 0.00002
NM_000204.5(CFI):c.530A>T (p.Asn177Ile) rs753060374 0.00002
NM_000204.5(CFI):c.546A>G (p.Leu182=) rs992376160 0.00002
NM_000204.5(CFI):c.773-3C>T rs375483832 0.00002
NM_000204.5(CFI):c.1016G>A (p.Arg339Gln) rs773085612 0.00001
NM_000204.5(CFI):c.1112G>T (p.Gly371Val) rs763931500 0.00001
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys) rs1292929833 0.00001
NM_000204.5(CFI):c.12T>A (p.Leu4=) rs777304665 0.00001
NM_000204.5(CFI):c.1399T>C (p.Cys467Arg) rs1724402529 0.00001
NM_000204.5(CFI):c.1429+5A>G rs771786368 0.00001
NM_000204.5(CFI):c.1479C>A (p.Ser493Arg) rs780759494 0.00001
NM_000204.5(CFI):c.1555G>A (p.Asp519Asn) rs121964918 0.00001
NM_000204.5(CFI):c.1656A>G (p.Lys552=) rs1308386684 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000204.5(CFI):c.209A>C (p.Asn70Thr) rs749553820 0.00001
NM_000204.5(CFI):c.424A>C (p.Lys142Gln) rs762431670 0.00001
NM_000204.5(CFI):c.439A>G (p.Met147Val) rs760787282 0.00001
NM_000204.5(CFI):c.540A>G (p.Glu180=) rs759777516 0.00001
NM_000204.5(CFI):c.662C>A (p.Ser221Tyr) rs377528991 0.00001
NM_000204.5(CFI):c.781G>A (p.Gly261Ser) rs547901965 0.00001
NM_000204.5(CFI):c.848A>G (p.Asp283Gly) rs756201106 0.00001
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.5(CFI):c.-13G>A rs113612355
NM_000204.5(CFI):c.1043T>C (p.Leu348Pro)
NM_000204.5(CFI):c.1044+9G>A rs568070697
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser) rs1579173999
NM_000204.5(CFI):c.1149-1G>A
NM_000204.5(CFI):c.1160C>T (p.Thr387Ile) rs1373768125
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs) rs758049059
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1279C>A (p.Gln427Lys)
NM_000204.5(CFI):c.1291G>T (p.Ala431Ser) rs758017357
NM_000204.5(CFI):c.1355C>A (p.Ala452Asp) rs1579164519
NM_000204.5(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.5(CFI):c.1487C>T (p.Ser496Phe)
NM_000204.5(CFI):c.1516A>C (p.Lys506Gln) rs886058982
NM_000204.5(CFI):c.1571A>G (p.Asp524Gly)
NM_000204.5(CFI):c.1571A>T (p.Asp524Val) rs121964914
NM_000204.5(CFI):c.1576G>T (p.Gly526Ter)
NM_000204.5(CFI):c.1637G>A (p.Trp546Ter) rs121964915
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter) rs2126178088
NM_000204.5(CFI):c.1683A>C (p.Lys561Asn)
NM_000204.5(CFI):c.184A>G (p.Lys62Glu) rs1393611407
NM_000204.5(CFI):c.192G>C (p.Pro64=) rs571265769
NM_000204.5(CFI):c.227C>G (p.Ala76Gly) rs1010351654
NM_000204.5(CFI):c.280C>T (p.Leu94Phe) rs1027910523
NM_000204.5(CFI):c.329-14dup rs754551276
NM_000204.5(CFI):c.373G>C (p.Gly125Arg) rs910978973
NM_000204.5(CFI):c.482+6C>A rs79375065
NM_000204.5(CFI):c.482+6C>T rs79375065
NM_000204.5(CFI):c.601A>G (p.Arg201Gly) rs887070139
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC rs2126214430
NM_000204.5(CFI):c.771A>G (p.Lys257=)
NM_000204.5(CFI):c.79del (p.Asp27fs)
NM_000204.5(CFI):c.850T>G (p.Cys284Gly) rs1483694585
NM_000204.5(CFI):c.91A>C (p.Lys31Gln) rs140888912
NM_000204.5(CFI):c.941-10T>C rs2126191742

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