List of variants in gene CFHR5 studied for atypical hemolytic-uremic syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_030787.4(CFHR5):c.-20T>C	rs9427662	0.19169
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)	rs35662416	0.01746
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)	rs12097550	0.01068
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)	rs139017763	0.00815
NM_030787.4(CFHR5):c.732C>T (p.Asn244=)	rs41306229	0.00250
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)	rs138834145	0.00009
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala)	rs140691305	0.00003
NM_030787.4(CFHR5):c.707A>G (p.Asp236Gly)	rs1283689984	0.00001
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
NM_030787.4(CFHR5):c.1106T>G (p.Val369Gly)
NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu)
NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)	rs141321678
NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)
NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile)	rs147488267
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)

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