ClinVar Miner

List of variants in gene CFI studied for Atypical hemolytic uremic syndrome

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Total variants: 39
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HGVS dbSNP
NM_000204.4(CFI):c.*112C>T rs551
NM_000204.4(CFI):c.*144T>C rs77449037
NM_000204.4(CFI):c.*214A>G rs28361433
NM_000204.4(CFI):c.*7G>T rs80173133
NM_000204.4(CFI):c.-13G>A rs113612355
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.4(CFI):c.1044+8C>T rs190420174
NM_000204.4(CFI):c.1044+9G>A rs568070697
NM_000204.4(CFI):c.1112G>T (p.Gly371Val) rs763931500
NM_000204.4(CFI):c.1206C>T (p.Pro402=) rs115780371
NM_000204.4(CFI):c.1217G>A (p.Arg406His) rs74817407
NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) rs61733901
NM_000204.4(CFI):c.129C>T (p.Cys43=) rs146462954
NM_000204.4(CFI):c.1322A>G (p.Lys441Arg) rs41278047
NM_000204.4(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.4(CFI):c.1410T>C (p.Ser470=) rs200068862
NM_000204.4(CFI):c.1429+5A>G rs771786368
NM_000204.4(CFI):c.1429+8T>C rs184313022
NM_000204.4(CFI):c.1429G>C (p.Asp477His) rs754972981
NM_000204.4(CFI):c.1443C>T (p.Val481=) rs114091883
NM_000204.4(CFI):c.1516A>C (p.Lys506Gln) rs886058982
NM_000204.4(CFI):c.1534+5G>T rs114013791
NM_000204.4(CFI):c.1581C>T (p.Gly527=) rs181378677
NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) rs7437875
NM_000204.4(CFI):c.1657C>T (p.Pro553Ser) rs113460688
NM_000204.4(CFI):c.1661A>T (p.Glu554Val) rs754572081
NM_000204.4(CFI):c.309C>T (p.Asn103=) rs761425840
NM_000204.4(CFI):c.315A>T (p.Thr105=) rs61745205
NM_000204.4(CFI):c.319A>G (p.Thr107Ala) rs201419000
NM_000204.4(CFI):c.405T>C (p.Asp135=) rs375792874
NM_000204.4(CFI):c.482+14T>A rs76014294
NM_000204.4(CFI):c.482+6C>T rs79375065
NM_000204.4(CFI):c.540A>G (p.Glu180=) rs759777516
NM_000204.4(CFI):c.608C>T (p.Thr203Ile) rs138346388
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000204.4(CFI):c.804G>A (p.Ser268=) rs2298749
NM_000204.4(CFI):c.884-7T>C rs140555685
NM_000204.4(CFI):c.905-3T>C rs377535161
NM_000204.4(CFI):c.916A>G (p.Ile306Val) rs113273712

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