List of variants in gene C1S reported as pathogenic for Complement component C1s deficiency

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001734.5(C1S):c.1132_1135del (p.Phe378fs)	rs2135727106
NM_001734.5(C1S):c.1567C>T (p.Arg523Ter)
NM_001734.5(C1S):c.343del (p.Ser115fs)

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