List of variants in gene C3 reported as pathogenic for complement deficiency

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000064.4(C3):c.193A>C (p.Lys65Gln)	rs539992721	0.00005
NC_000019.10:g.(6695981_6695999)_(6696810_6696831)del
NM_000064.4(C3):c.169_170del (p.Val57fs)	rs1568229677
NM_000064.4(C3):c.2354+1G>A	rs112996548
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)	rs1918142335
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)	rs1568212112
NM_000064.4(C3):c.4631-2A>G	rs111595742
NM_000064.4(C3):c.481C>T (p.Arg161Trp)	rs776423109

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