List of variants in gene C1QC reported as pathogenic for C1Q 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_172369.5(C1QC):c.100G>A (p.Gly34Arg)	rs200206736	0.00005
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser)	rs752596663	0.00004
NM_172369.5(C1QC):c.205C>T (p.Arg69Ter)	rs377549148	0.00001

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