List of variants in gene CFI reported as uncertain significance for Atypical hemolytic-uremic syndrome with I factor anomaly

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)	rs7437875	0.00206
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.1709G>C (p.Ser570Thr)	rs200973120	0.00008
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.1429G>C (p.Asp477His)	rs754972981	0.00002
NM_000204.5(CFI):c.205A>G (p.Lys69Glu)	rs771325547	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.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.1279C>A (p.Gln427Lys)
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.1637G>T (p.Trp546Leu)
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.373G>C (p.Gly125Arg)	rs910978973
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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