ClinVar Miner

List of variants in gene CFI reported as uncertain significance for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.4(CFI):c.1112G>T (p.Gly371Val) rs763931500
NM_000204.4(CFI):c.129C>T (p.Cys43=) rs146462954
NM_000204.4(CFI):c.1381T>C (p.Phe461Leu) rs886058983
NM_000204.4(CFI):c.1429+5A>G rs771786368
NM_000204.4(CFI):c.1429G>C (p.Asp477His) rs754972981
NM_000204.4(CFI):c.1516A>C (p.Lys506Gln) rs886058982
NM_000204.4(CFI):c.1532C>T (p.Ala511Val) rs760801046
NM_000204.4(CFI):c.1709G>C (p.Ser570Thr) rs200973120
NM_000204.4(CFI):c.205A>G (p.Lys69Glu) rs771325547
NM_000204.4(CFI):c.209A>C (p.Asn70Thr)
NM_000204.4(CFI):c.309C>T (p.Asn103=) rs761425840
NM_000204.4(CFI):c.405T>C (p.Asp135=) rs375792874
NM_000204.4(CFI):c.540A>G (p.Glu180=) rs759777516

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