ClinVar Miner

List of variants reported as uncertain significance for atypical hemolytic-uremic syndrome with I factor anomaly by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000204.4(CFI):c.-171G>A rs182477786 0.00026
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_000204.5(CFI):c.60C>T (p.Val20=) rs776132010 0.00007
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) rs144082872 0.00006
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.1709G>C (p.Ser570Thr) rs200973120 0.00003
NM_000204.5(CFI):c.1429G>C (p.Asp477His) rs754972981 0.00002
NM_000204.5(CFI):c.1112G>T (p.Gly371Val) rs763931500 0.00001
NM_000204.5(CFI):c.1429+5A>G rs771786368 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.781G>A (p.Gly261Ser) rs547901965 0.00001
NM_000204.4(CFI):c.-98T>C rs886058984
NM_000204.5(CFI):c.1044+9G>A rs568070697
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.373G>C (p.Gly125Arg) rs910978973
NM_000204.5(CFI):c.91A>C (p.Lys31Gln) rs140888912

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