ClinVar Miner

List of variants reported as benign for Immunodeficiency due to MASP-2 deficiency by Illumina Laboratory Services, Illumina

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_006610.4(MASP2):c.*225T>C rs1033638 0.69325
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455 0.67756
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
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT rs3059695

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