ClinVar Miner

List of variants in gene C1QA studied for complement deficiency

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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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_015991.4(C1QA):c.11C>G (p.Pro4Arg) rs149230484 0.00023
NM_015991.4(C1QA):c.162G>A (p.Pro54=) rs375714569 0.00013
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter) rs121909581 0.00004
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

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