ClinVar Miner

List of variants in gene MASP2 studied for Immunodeficiency due to MASP-2 deficiency

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Total variants: 59
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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.359A>G (p.Asp120Gly) rs72550870 0.02284
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.467G>A (p.Cys156Tyr) rs41307788 0.00558
NM_006610.4(MASP2):c.234+13C>T rs72647262 0.00557
NM_006610.4(MASP2):c.881C>T (p.Thr294Met) rs139962539 0.00544
NM_006610.4(MASP2):c.1064A>T (p.Asp355Val) rs61735596 0.00303
NM_006610.4(MASP2):c.263C>T (p.Thr88Met) rs61735601 0.00197
NM_006610.4(MASP2):c.464A>G (p.His155Arg) rs2273343 0.00096
NM_006610.4(MASP2):c.742-12C>T rs201703577 0.00086
NM_006610.4(MASP2):c.828C>G (p.Ile276Met) rs149800848 0.00080
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys) rs147270785 0.00066
NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile) rs143981111 0.00063
NM_006610.4(MASP2):c.383C>T (p.Thr128Met) rs141145402 0.00061
NM_006610.4(MASP2):c.395C>T (p.Ala132Val) rs144632025 0.00061
NM_006610.4(MASP2):c.231C>T (p.Val77=) rs140239262 0.00058
NM_006610.4(MASP2):c.1213G>A (p.Val405Met) rs61735594 0.00025
NM_006610.4(MASP2):c.234+6G>A rs183487544 0.00019
NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr) rs185903926 0.00016
NM_006610.4(MASP2):c.100G>A (p.Gly34Ser) rs373677176 0.00009
NM_006610.4(MASP2):c.99C>T (p.Pro33=) rs534852238 0.00007
NM_006610.4(MASP2):c.741+1G>T rs368040764 0.00005
NM_006610.4(MASP2):c.86G>A (p.Arg29His) rs375887709 0.00005
NM_006610.4(MASP2):c.412+1G>A rs781037969 0.00004
NM_006610.4(MASP2):c.159C>T (p.Pro53=) rs376802078 0.00003
NM_006610.4(MASP2):c.172C>T (p.Arg58Cys) rs566630945 0.00003
NM_006610.4(MASP2):c.229G>A (p.Val77Ile) rs376609308 0.00003
NM_006610.4(MASP2):c.446C>T (p.Ala149Val) rs761179644 0.00002
NM_006610.4(MASP2):c.661T>C (p.Phe221Leu) rs756947952 0.00002
NM_006610.4(MASP2):c.81C>T (p.Phe27=) rs886045056 0.00002
NM_006610.4(MASP2):c.890-1G>A rs370918294 0.00002
NM_006610.4(MASP2):c.1080G>A (p.Ala360=) rs774776055 0.00001
NM_006610.4(MASP2):c.154C>T (p.Pro52Ser) rs570974459 0.00001
NM_006610.4(MASP2):c.384G>A (p.Thr128=) rs187107024 0.00001
NM_006610.4(MASP2):c.420C>T (p.Asp140=) rs760062530 0.00001
NM_006610.4(MASP2):c.503G>A (p.Arg168His) rs778384259 0.00001
NM_006610.4(MASP2):c.507A>G (p.Ala169=) rs201972294 0.00001
NM_006610.4(MASP2):c.626C>T (p.Ser209Phe) rs748760302 0.00001
NM_006610.4(MASP2):c.967A>C (p.Ser323Arg) rs771074354 0.00001
NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr) rs200844905
NM_006610.4(MASP2):c.1191A>C (p.Glu397Asp) rs1643830509
NM_006610.4(MASP2):c.223G>A (p.Asp75Asn) rs759383807
NM_006610.4(MASP2):c.242C>A (p.Ser81Ter) rs148831269
NM_006610.4(MASP2):c.277G>C (p.Glu93Gln) rs747767865
NM_006610.4(MASP2):c.437C>T (p.Pro146Leu) rs1411989082
NM_006610.4(MASP2):c.612G>A (p.Pro204=) rs72550853
NM_006610.4(MASP2):c.612G>T (p.Pro204=) rs72550853
NM_006610.4(MASP2):c.808A>C (p.Lys270Gln) rs886045054
NM_006610.4(MASP2):c.93A>T (p.Ala31=) rs886045055

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