List of variants in gene CFH reported as likely pathogenic for anemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)	rs757785149	0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)	rs460184	0.00001
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys)	rs1573087364	0.00001
NM_000186.4(CFH):c.1154G>T (p.Cys385Phe)
NM_000186.4(CFH):c.1520-2A>G
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)	rs1210674261
NM_000186.4(CFH):c.2609G>A (p.Cys870Tyr)
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)	rs886039869
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)
NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer)
NM_000186.4(CFH):c.3472dup (p.Ser1158fs)
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser)	rs1573087200
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)	rs2149118712
NM_000186.4(CFH):c.3644G>A (p.Arg1215Gln)
NM_000186.4(CFH):c.58G>A (p.Asp20Asn)	rs1553270437

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