ClinVar Miner

List of variants studied for complement deficiency by Centogene AG - the Rare Disease Company

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter) rs867425110
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs) rs1642221044
NM_172351.3(CD46):c.857-124T>A rs886045837

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