List of variants reported as pathogenic for C1Q deficiency

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg)	rs200206736	0.00005
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter)	rs121909581	0.00004
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser)	rs752596663	0.00004
NM_001378156.1(C1QB):c.724G>A (p.Gly242Arg)	rs34813378	0.00001
NM_172369.5(C1QC):c.205C>T (p.Arg69Ter)	rs377549148	0.00001
NM_015991.4(C1QA):c.648G>A (p.Trp216Ter)	rs34139950

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