ClinVar Miner

List of variants studied for mannose-binding lectin deficiency by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp) rs1800450 0.11335
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) rs1800451 0.08024
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys) rs5030737 0.04964

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