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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006610.4(MASP2):c.1111G>T (p.Asp371Tyr)	rs12711521	0.62832
NM_006610.4(MASP2):c.891G>A (p.Ala297=)	rs12142107	0.08579
NM_006610.4(MASP2):c.729C>T (p.Tyr243=)	rs7536030	0.08173
NM_006610.4(MASP2):c.1130T>C (p.Val377Ala)	rs2273346	0.05757
NM_006610.4(MASP2):c.377C>T (p.Pro126Leu)	rs56392418	0.03726
NM_006610.4(MASP2):c.555C>T (p.Ser185=)	rs78775425	0.02482
NM_006610.4(MASP2):c.296G>A (p.Arg99Gln)	rs61735600	0.02122
NM_006610.4(MASP2):c.882G>A (p.Thr294=)	rs61735598	0.01862
NM_006610.4(MASP2):c.408C>T (p.Ala136=)	rs138386377	0.00838
NM_006610.4(MASP2):c.33T>C (p.Cys11=)	rs61735592	0.00763
NM_006610.4(MASP2):c.60G>A (p.Pro20=)	rs61432273	0.00601
NM_006610.4(MASP2):c.470A>G (p.His157Arg)	rs144247267	0.00581
NM_006610.4(MASP2):c.881C>T (p.Thr294Met)	rs139962539	0.00544
NM_006610.4(MASP2):c.464A>G (p.His155Arg)	rs2273343	0.00096
NM_006610.4(MASP2):c.612G>A (p.Pro204=)	rs72550853

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