ClinVar Miner

List of variants studied for C1Q deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015991.4(C1QA):c.276A>G (p.Gly92=) rs172378 0.48561
NM_015991.4(C1QA):c.67G>A (p.Glu23Lys) rs17887074 0.00330
NM_001378156.1(C1QB):c.543C>T (p.Asn181=) rs149612866 0.00265
NM_001378156.1(C1QB):c.217G>A (p.Gly73Arg) rs35477594 0.00054
NM_015991.4(C1QA):c.11C>G (p.Pro4Arg) rs149230484 0.00023
NM_015991.4(C1QA):c.162G>A (p.Pro54=) rs375714569 0.00013
NM_172369.5(C1QC):c.538G>A (p.Val180Met) rs200292688 0.00006
NM_172369.5(C1QC):c.8T>C (p.Val3Ala) rs367838299 0.00006
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_172369.5(C1QC):c.706G>A (p.Val236Ile) rs774542072 0.00002
NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter) rs751172449 0.00001
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_001378156.1(C1QB):c.181+1G>T rs1361922961
NM_001378156.1(C1QB):c.371C>A (p.Ala124Asp)
NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs) rs1642221044
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp) rs1570073403
NM_015991.4(C1QA):c.648G>A (p.Trp216Ter) rs34139950
NM_015991.4(C1QA):c.79C>T (p.Arg27Ter) rs952339666
NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn) rs1557603993
NM_172369.5(C1QC):c.19delinsAA (p.Ser7fs)
NM_172369.5(C1QC):c.213del (p.Gln74fs) rs761681612
NM_172369.5(C1QC):c.644AGG[1] (p.Glu216del)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.