List of variants in gene CFH reported as pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000186.4(CFH):c.1126C>T (p.Gln376Ter)	rs1573026975
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs)	rs1558162157
NM_000186.4(CFH):c.2535dup (p.Gln846fs)	rs1573076111
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)	rs121913057
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)	rs886039869
NM_000186.4(CFH):c.3134-2A>G	rs1300996807
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer)	rs1553273733

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