List of variants in gene CFH reported as pathogenic for perceptual disorders

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000186.4(CFH):c.1204= (p.His402=)	rs1061170	0.36375
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	rs121913059	0.00019
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser)	rs121913062	0.00004
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)	rs150694809	0.00002
NM_000186.4(CFH):c.1222C>T (p.Gln408Ter)	rs121913061
NM_000186.4(CFH):c.2303del (p.Lys768fs)
NM_000186.4(CFH):c.350+6T>G	rs387906550
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	rs460897
NM_000186.4(CFH):c.678_681del (p.Tyr227fs)

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