ClinVar Miner

List of variants in gene MBL2 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001378373.1(MBL2):c.*1135A>G rs11595876 0.04693
NM_001378373.1(MBL2):c.*1711T>G rs12254557 0.04213
NM_001378373.1(MBL2):c.408C>T (p.Asn136=) rs35805975 0.02062
NM_001378373.1(MBL2):c.*865A>C rs55714260 0.01839
NM_001378373.1(MBL2):c.*1134C>T rs11003121 0.00880
NM_001378373.1(MBL2):c.*2702G>A rs114932753 0.00736
NM_001378373.1(MBL2):c.*1694G>T rs35327474 0.00547
NM_001378373.1(MBL2):c.*1136A>G rs115639140 0.00540
NM_001378373.1(MBL2):c.*2450A>T rs56325023 0.00387
NM_001378373.1(MBL2):c.*2727G>T rs138449358 0.00372
NM_001378373.1(MBL2):c.*2207G>A rs191761980 0.00290
NM_001378373.1(MBL2):c.*447G>C rs374583038 0.00228
NM_001378373.1(MBL2):c.*1498C>T rs56009657 0.00213
NM_001378373.1(MBL2):c.*1819T>C rs774307463 0.00171
NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter) rs74754826 0.00140
NM_001378373.1(MBL2):c.132C>T (p.Asn44=) rs34120190 0.00087
NM_001378373.1(MBL2):c.*1995del rs751460283 0.00061
NM_001378373.1(MBL2):c.*2209T>C rs747317698 0.00055
NM_001378373.1(MBL2):c.*675C>T rs56213573 0.00038
NM_001378373.1(MBL2):c.-9-5C>G rs184683428 0.00026
NM_001378373.1(MBL2):c.483T>C (p.Ser161=) rs760332285 0.00026
NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr) rs149216902 0.00023
NM_001378373.1(MBL2):c.*1088C>T rs56095345 0.00022
NM_001378373.1(MBL2):c.490A>C (p.Thr164Pro) rs200749792 0.00010
NM_001378373.1(MBL2):c.*99T>G rs553395892 0.00009
NM_001378373.1(MBL2):c.*3G>T rs371397104 0.00008
NM_001378373.1(MBL2):c.*2067C>T rs542103508 0.00007
NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu) rs143562102 0.00007
NM_001378373.1(MBL2):c.303G>A (p.Pro101=) rs55902142 0.00007
NM_001378373.1(MBL2):c.*1287C>T rs551861672 0.00006
NM_001378373.1(MBL2):c.*1452A>T rs186828712 0.00004
NM_001378373.1(MBL2):c.*1569A>G rs754268753 0.00003
NM_001378373.1(MBL2):c.*2457G>C rs1263739066 0.00003
NM_001378373.1(MBL2):c.*1144A>G rs886047046 0.00002
NM_001378373.1(MBL2):c.*7A>G rs777309633 0.00002
NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser) rs8191996 0.00002
NM_001378373.1(MBL2):c.*1213C>T rs1840313554 0.00001
NM_001378373.1(MBL2):c.*1448C>T rs1403377181 0.00001
NM_001378373.1(MBL2):c.*1839A>G rs1203114895 0.00001
NM_001378373.1(MBL2):c.*289C>T rs886047050 0.00001
NM_001378373.1(MBL2):c.*674A>G rs886047049 0.00001
NM_001378373.1(MBL2):c.*708G>A rs558872633 0.00001
NM_001378373.1(MBL2):c.109G>T (p.Ala37Ser) rs201511397 0.00001
NM_001378373.1(MBL2):c.133G>A (p.Gly45Ser) rs1342494768 0.00001
NM_001378373.1(MBL2):c.166A>G (p.Lys56Glu) rs886047052 0.00001
NM_001378373.1(MBL2):c.249G>T (p.Gly83=) rs757152192 0.00001
NM_001378373.1(MBL2):c.26T>C (p.Leu9Pro) rs1049360705 0.00001
NM_001378373.1(MBL2):c.656A>T (p.Asp219Val) rs780449116 0.00001
NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys) rs776003487 0.00001
NM_001378373.1(MBL2):c.*1252A>C rs1840312785
NM_001378373.1(MBL2):c.*1429A>C rs577771508
NM_001378373.1(MBL2):c.*1568C>T rs886047045
NM_001378373.1(MBL2):c.*1695G>T rs35768126
NM_001378373.1(MBL2):c.*1743T>C rs529374068
NM_001378373.1(MBL2):c.*2032C>T rs977172176
NM_001378373.1(MBL2):c.*2033G>A rs544901610
NM_001378373.1(MBL2):c.*2066G>T rs886047044
NM_001378373.1(MBL2):c.*2129T>C rs1382426241
NM_001378373.1(MBL2):c.*2470A>C rs886047043
NM_001378373.1(MBL2):c.*2477C>T rs55855374
NM_001378373.1(MBL2):c.*2648C>A rs183826308
NM_001378373.1(MBL2):c.*2751A>C rs758996436
NM_001378373.1(MBL2):c.*282A>G rs886047051
NM_001378373.1(MBL2):c.*324C>T rs551192639
NM_001378373.1(MBL2):c.*366G>A rs1840327961
NM_001378373.1(MBL2):c.*783C>T rs567802378
NM_001378373.1(MBL2):c.*937A>G rs886047048
NM_001378373.1(MBL2):c.*953T>C rs886047047
NM_001378373.1(MBL2):c.*966A>G rs1336069649
NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala) rs886047053
NM_001378373.1(MBL2):c.187+9T>C rs1840389903
NM_001378373.1(MBL2):c.549C>T (p.Phe183=) rs1840337967
NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys) rs756763361
NM_001378373.1(MBL2):c.99T>G (p.Pro33=) rs1840392728

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