ClinVar Miner

List of variants in gene MASP2 reported as likely pathogenic for Immunodeficiency due to MASP-2 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	rs72550870	0.02284
NM_006610.4(MASP2):c.741+1G>T	rs368040764	0.00005

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