ClinVar Miner

List of variants reported as likely pathogenic for Complement component 3 deficiency

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000064.4(C3):c.193A>C (p.Lys65Gln)	rs539992721	0.00005
NM_000064.4(C3):c.2061dup (p.Lys688fs)	rs1599518940
NM_000064.4(C3):c.3489+2T>C
NM_000064.4(C3):c.3813dup (p.Thr1272fs)

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