ClinVar Miner

List of variants studied for C1Q deficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378156.1(C1QB):c.217G>A (p.Gly73Arg) rs35477594 0.00054
NM_015991.4(C1QA):c.162G>A (p.Pro54=) rs375714569 0.00013
NM_172369.5(C1QC):c.8T>C (p.Val3Ala) rs367838299 0.00006
NM_172369.5(C1QC):c.706G>A (p.Val236Ile) rs774542072 0.00002
NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn) rs1557603993
NM_172369.5(C1QC):c.19delinsAA (p.Ser7fs)

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