ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency due to MASP-2 deficiency

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Total variants: 62
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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.1243G>A (p.Asp415Asn) rs61735593 0.00658
NM_006610.4(MASP2):c.*189G>A rs116311214 0.00581
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr) rs41307788 0.00558
NM_006610.4(MASP2):c.263C>T (p.Thr88Met) rs61735601 0.00197
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.*219C>T rs775881603 0.00055
NM_006610.4(MASP2):c.1314C>T (p.Ala438=) rs199953319 0.00031
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.1727C>T (p.Thr576Ile) rs202214079 0.00016
NM_006610.4(MASP2):c.*171A>C rs183998926 0.00014
NM_006610.4(MASP2):c.100G>A (p.Gly34Ser) rs373677176 0.00009
NM_006610.4(MASP2):c.86G>A (p.Arg29His) rs375887709 0.00005
NM_006610.4(MASP2):c.1470T>G (p.His490Gln) rs750359413 0.00004
NM_006610.4(MASP2):c.412+1G>A rs781037969 0.00004
NM_006610.4(MASP2):c.*212A>G rs987591296 0.00003
NM_006610.4(MASP2):c.*311T>C rs771262318 0.00003
NM_006610.4(MASP2):c.1574A>G (p.His525Arg) rs745359886 0.00003
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_007375.4(TARDBP):c.*2123T>C rs1464055996 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.1972A>G (p.Met658Val) rs1643743988 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.*111C>T rs886045052
NM_006610.4(MASP2):c.*220A>G rs1643737115
NM_006610.4(MASP2):c.*282C>A rs375230404
NM_006610.4(MASP2):c.*64C>T rs1011130298
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.1231G>A (p.Val411Met) rs367583731
NM_006610.4(MASP2):c.1254_1261delinsCCTCACACACTC (p.Trp418fs)
NM_006610.4(MASP2):c.1468C>T (p.His490Tyr) rs1643757459
NM_006610.4(MASP2):c.1590C>T (p.Asp530=) rs886045053
NM_006610.4(MASP2):c.1719G>C (p.Trp573Cys)
NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser) rs1236065829
NM_006610.4(MASP2):c.1903G>A (p.Gly635Arg)
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>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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