ClinVar Miner

List of variants in gene MBL2 reported as likely benign for complement deficiency

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001378373.1(MBL2):c.378C>G (p.Leu126=) rs930507 0.77778
NM_001378373.1(MBL2):c.*1691G>A rs10824792 0.47567
NM_001378373.1(MBL2):c.*2219A>C rs2083771 0.33140
NM_001378373.1(MBL2):c.*2388T>G rs2506 0.33130
NM_001378373.1(MBL2):c.*2048A>G rs2099902 0.33061
NM_000242.2(MBL2):c.-66C>T rs7095891 0.30009
NM_001378373.1(MBL2):c.*1275T>C rs10082466 0.29126
NM_001378373.1(MBL2):c.*1879A>C rs2120131 0.28974
NM_001378373.1(MBL2):c.*1913C>T rs2165813 0.28952
NM_001378373.1(MBL2):c.*1857A>G rs2120132 0.28951
NM_001378373.1(MBL2):c.*2040G>T rs2099903 0.28799
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.08024

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