ClinVar Miner

List of variants in gene C1S reported as uncertain significance 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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001734.5(C1S):c.943G>A (p.Asp315Asn)	rs117907409	0.00349
NM_001734.5(C1S):c.733C>T (p.Arg245Trp)	rs147971272	0.00003

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