ClinVar Miner

List of variants studied for complement deficiency by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.1879del (p.Asp627fs) rs61469168 0.00328
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter) rs41286844 0.00118
NM_000066.4(C8B):c.271C>T (p.Gln91Ter) rs146187042 0.00023
NM_000065.5(C6):c.1786C>T (p.Arg596Ter) rs142881576 0.00013
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_000063.6(C2):c.841_849+19del rs9332736
NM_001735.3(C5):c.4336del (p.Val1446fs) rs1554718962

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