ClinVar Miner

List of variants reported as pathogenic for C1Q deficiency

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
NM_000491.5(C1QB):c.187+1G>T rs1361922961
NM_000491.5(C1QB):c.730G>A (p.Gly244Arg) rs34813378
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter) rs121909581
NM_015991.4(C1QA):c.648G>A (p.Trp216Ter) rs34139950
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg) rs200206736
NM_172369.5(C1QC):c.205C>T (p.Arg69Ter) rs377549148
NM_172369.5(C1QC):c.213del (p.Gln74fs) rs761681612
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser) rs752596663
c.455G-A

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