ClinVar Miner

List of variants in gene CFI reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00206
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
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.905-3T>C rs377535161 0.00014
NM_000204.5(CFI):c.338G>A (p.Ser113Asn) rs150610189 0.00012
NM_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr) rs200973120 0.00008
NM_000204.5(CFI):c.193T>C (p.Tyr65His) rs774783110 0.00008
NM_000204.5(CFI):c.60C>T (p.Val20=) rs776132010 0.00007
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.325G>A (p.Glu109Lys) rs748098641 0.00006
NM_000204.5(CFI):c.949C>T (p.Arg317Trp) rs121964917 0.00006
NM_000204.5(CFI):c.1150G>A (p.Ala384Thr) rs762315947 0.00005
NM_000204.5(CFI):c.1268C>A (p.Ala423Glu) rs555832641 0.00004
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_000204.5(CFI):c.57+9T>C rs189973137 0.00004
NM_000204.5(CFI):c.950G>A (p.Arg317Gln) rs751111134 0.00004
NM_000204.5(CFI):c.1063G>A (p.Val355Met) rs1250103299 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.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.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.1A>G (p.Met1Val) rs770655669 0.00001
NM_000204.5(CFI):c.209A>C (p.Asn70Thr) rs749553820 0.00001
NM_000204.5(CFI):c.377T>C (p.Ile126Thr) rs778891732 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.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.1043T>C (p.Leu348Pro)
NM_000204.5(CFI):c.1044+9G>A rs568070697
NM_000204.5(CFI):c.1160C>T (p.Thr387Ile) rs1373768125
NM_000204.5(CFI):c.11T>A (p.Leu4His)
NM_000204.5(CFI):c.1279C>A (p.Gln427Lys)
NM_000204.5(CFI):c.1289T>C (p.Ile430Thr)
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.1516A>C (p.Lys506Gln) rs886058982
NM_000204.5(CFI):c.1683A>C (p.Lys561Asn)
NM_000204.5(CFI):c.184A>G (p.Lys62Glu) rs1393611407
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.292A>G (p.Thr98Ala) rs1478686846
NM_000204.5(CFI):c.373G>C (p.Gly125Arg) rs910978973
NM_000204.5(CFI):c.601A>G (p.Arg201Gly) rs887070139
NM_000204.5(CFI):c.771A>G (p.Lys257=)
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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