List of variants in gene C7 reported as pathogenic for immunodeficiency due to a late component of 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)	rs121964921	0.00006
NM_000587.4(C7):c.63-1G>A	rs1022194067	0.00004
NM_000587.4(C7):c.281-1G>T	rs531103546	0.00001
C7, 11-BP DEL, NT631
C7, EX7-8DEL
NM_000587.4(C7):c.1314del (p.Lys438fs)	rs774370086
NM_000587.4(C7):c.1458T>A (p.Cys486Ter)	rs121964922
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)	rs121964920
NM_000587.4(C7):c.1924_1925del (p.His643fs)	rs764871530
NM_000587.4(C7):c.2140_2141del (p.Val714fs)	rs1467298230
NM_000587.4(C7):c.2184T>A (p.Cys728Ter)	rs387906509
NM_000587.4(C7):c.2350+1del	rs779723422
NM_000587.4(C7):c.317del (p.Asp106fs)	rs1579848888
NM_000587.4(C7):c.633_643del (p.Ser212fs)	rs770367814

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