ClinVar Miner

List of variants in gene MALT1 reported as likely benign for combined immunodeficiency due to MALT1 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 149
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006785.4(MALT1):c.1223-20_1223-17del rs558928879 0.00553
NM_006785.4(MALT1):c.219C>G (p.Asp73Glu) rs111255512 0.00275
NM_006785.4(MALT1):c.1921A>G (p.Ile641Val) rs35533328 0.00179
NM_006785.4(MALT1):c.677A>G (p.Lys226Arg) rs149988025 0.00101
NM_006785.4(MALT1):c.649+9C>T rs200919386 0.00088
NM_006785.4(MALT1):c.1912-17A>G rs368071338 0.00061
NM_006785.4(MALT1):c.1401-6A>C rs181901226 0.00046
NM_006785.4(MALT1):c.2370C>T (p.Phe790=) rs200126163 0.00031
NM_006785.4(MALT1):c.502C>A (p.Pro168Thr) rs560703292 0.00029
NM_006785.4(MALT1):c.1449C>T (p.Thr483=) rs150095121 0.00028
NM_006785.4(MALT1):c.986-5T>A rs545727809 0.00020
NM_006785.4(MALT1):c.1223-21_1223-18del rs767490681 0.00014
NM_006785.4(MALT1):c.1282G>A (p.Val428Ile) rs140664950 0.00011
NM_006785.4(MALT1):c.1578T>C (p.Thr526=) rs570727083 0.00010
NM_006785.4(MALT1):c.1164A>G (p.Glu388=) rs200254991 0.00006
NM_006785.4(MALT1):c.1257T>C (p.Asn419=) rs779308482 0.00005
NM_006785.4(MALT1):c.1018+15A>G rs768104703 0.00004
NM_006785.4(MALT1):c.210-19T>C rs200992488 0.00004
NM_006785.4(MALT1):c.210-7C>T rs768986231 0.00004
NM_006785.4(MALT1):c.2184A>G (p.Gln728=) rs750239793 0.00004
NM_006785.4(MALT1):c.498+11A>C rs755962287 0.00004
NM_006785.4(MALT1):c.1302T>C (p.Tyr434=) rs202104175 0.00003
NM_006785.4(MALT1):c.1893C>T (p.Tyr631=) rs141271271 0.00003
NM_006785.4(MALT1):c.2208T>G (p.Pro736=) rs752025790 0.00003
NM_006785.4(MALT1):c.2220T>A (p.Ser740=) rs781598781 0.00003
NM_006785.4(MALT1):c.822A>G (p.Leu274=) rs762795672 0.00003
NM_006785.4(MALT1):c.1019-16T>G rs1555687704 0.00002
NM_006785.4(MALT1):c.1475+17T>A rs775414732 0.00002
NM_006785.4(MALT1):c.2223A>G (p.Ala741=) rs903593943 0.00002
NM_006785.4(MALT1):c.663C>T (p.Gly221=) rs374931065 0.00002
NM_006785.4(MALT1):c.828+19G>C rs1025591481 0.00002
NM_006785.4(MALT1):c.828+9T>C rs750591035 0.00002
NM_006785.4(MALT1):c.1101C>T (p.Tyr367=) rs764868894 0.00001
NM_006785.4(MALT1):c.1236T>C (p.Tyr412=) rs750258421 0.00001
NM_006785.4(MALT1):c.1281C>T (p.Pro427=) rs199843812 0.00001
NM_006785.4(MALT1):c.1293A>G (p.Pro431=) rs1357458047 0.00001
NM_006785.4(MALT1):c.1374G>A (p.Val458=) rs760569041 0.00001
NM_006785.4(MALT1):c.1476-9A>G rs754321602 0.00001
NM_006785.4(MALT1):c.1753+16T>A rs1568155848 0.00001
NM_006785.4(MALT1):c.2025G>A (p.Leu675=) rs1235494464 0.00001
NM_006785.4(MALT1):c.210-16T>C rs776534946 0.00001
NM_006785.4(MALT1):c.264C>G (p.Pro88=) rs923556568 0.00001
NM_006785.4(MALT1):c.279G>A (p.Leu93=) rs761317500 0.00001
NM_006785.4(MALT1):c.376+13C>T rs375662132 0.00001
NM_006785.4(MALT1):c.498+10T>A rs1038295197 0.00001
NM_006785.4(MALT1):c.649+10G>A rs770349160 0.00001
NM_006785.4(MALT1):c.798A>G (p.Pro266=) rs376106734 0.00001
NM_006785.4(MALT1):c.813C>T (p.Thr271=) rs752497631 0.00001
NM_006785.4(MALT1):c.837T>C (p.Tyr279=) rs762659498 0.00001
NM_006785.4(MALT1):c.959-11C>A rs368656387 0.00001
NM_006785.4(MALT1):c.986-6G>A rs1243361613 0.00001
NM_006785.4(MALT1):c.1008C>T (p.Asp336=)
NM_006785.4(MALT1):c.1019-5dup
NM_006785.4(MALT1):c.1041G>A (p.Leu347=)
NM_006785.4(MALT1):c.1059C>T (p.Tyr353=)
NM_006785.4(MALT1):c.1125G>A (p.Gln375=)
NM_006785.4(MALT1):c.1158T>C (p.Leu386=)
NM_006785.4(MALT1):c.1222+15A>C
NM_006785.4(MALT1):c.1223-17A>G
NM_006785.4(MALT1):c.1223-18T>C
NM_006785.4(MALT1):c.1223-20_1223-18del
NM_006785.4(MALT1):c.1266C>T (p.Asn422=)
NM_006785.4(MALT1):c.1296T>C (p.Asn432=)
NM_006785.4(MALT1):c.1381T>C (p.Leu461=)
NM_006785.4(MALT1):c.1401-15G>A rs371051170
NM_006785.4(MALT1):c.1401-15G>T rs371051170
NM_006785.4(MALT1):c.1401-17C>G
NM_006785.4(MALT1):c.1401-17C>T
NM_006785.4(MALT1):c.1401-20C>T rs1279846983
NM_006785.4(MALT1):c.1401-26_1401-17del
NM_006785.4(MALT1):c.1428C>T (p.Ile476=)
NM_006785.4(MALT1):c.1476-17C>T rs2055207631
NM_006785.4(MALT1):c.1476-20C>T
NM_006785.4(MALT1):c.1539A>G (p.Lys513=) rs2144466195
NM_006785.4(MALT1):c.1603+11_1603+17del rs1474855583
NM_006785.4(MALT1):c.1603+16A>G
NM_006785.4(MALT1):c.1604-11del
NM_006785.4(MALT1):c.1604-7C>A
NM_006785.4(MALT1):c.1604-8T>A rs2144484576
NM_006785.4(MALT1):c.1635A>G (p.Lys545=)
NM_006785.4(MALT1):c.1642C>T (p.Leu548=)
NM_006785.4(MALT1):c.1647G>A (p.Glu549=)
NM_006785.4(MALT1):c.1662A>G (p.Leu554=)
NM_006785.4(MALT1):c.1753+10A>C rs759478135
NM_006785.4(MALT1):c.1753+15A>G
NM_006785.4(MALT1):c.1754-14T>C
NM_006785.4(MALT1):c.1754-15A>T rs2144488842
NM_006785.4(MALT1):c.1754-18C>G
NM_006785.4(MALT1):c.1754-20T>A
NM_006785.4(MALT1):c.1754-8T>C
NM_006785.4(MALT1):c.1824T>C (p.Phe608=)
NM_006785.4(MALT1):c.1839C>T (p.Ile613=)
NM_006785.4(MALT1):c.1911+14T>C rs2144489190
NM_006785.4(MALT1):c.1912-6T>G rs944241693
NM_006785.4(MALT1):c.1965C>G (p.Gly655=)
NM_006785.4(MALT1):c.1977A>T (p.Val659=)
NM_006785.4(MALT1):c.2037+7A>G
NM_006785.4(MALT1):c.2038-17del
NM_006785.4(MALT1):c.2038-8C>G
NM_006785.4(MALT1):c.2049C>T (p.Val683=)
NM_006785.4(MALT1):c.2067A>G (p.Ser689=)
NM_006785.4(MALT1):c.2073G>A (p.Gln691=)
NM_006785.4(MALT1):c.2079A>G (p.Ser693=)
NM_006785.4(MALT1):c.2083T>C (p.Leu695=)
NM_006785.4(MALT1):c.2085G>A (p.Leu695=)
NM_006785.4(MALT1):c.210-14T>C
NM_006785.4(MALT1):c.210-20A>G
NM_006785.4(MALT1):c.2115G>A (p.Val705=) rs201899332
NM_006785.4(MALT1):c.2115G>C (p.Val705=) rs201899332
NM_006785.4(MALT1):c.2133C>T (p.Leu711=)
NM_006785.4(MALT1):c.2217T>C (p.Ser739=) rs1289087141
NM_006785.4(MALT1):c.2241A>T (p.Ala747=) rs2144495066
NM_006785.4(MALT1):c.2310T>C (p.Asn770=)
NM_006785.4(MALT1):c.2325T>C (p.Asp775=)
NM_006785.4(MALT1):c.2385A>G (p.Ser795=) rs2144495406
NM_006785.4(MALT1):c.2424T>A (p.Thr808=)
NM_006785.4(MALT1):c.2451C>T (p.Asp817=) rs1602347562
NM_006785.4(MALT1):c.315A>G (p.Glu105=)
NM_006785.4(MALT1):c.366C>T (p.Leu122=)
NM_006785.4(MALT1):c.377-15_377-3del
NM_006785.4(MALT1):c.377-16T>C
NM_006785.4(MALT1):c.377-16_377-3del rs574285957
NM_006785.4(MALT1):c.377-6T>C
NM_006785.4(MALT1):c.411A>C (p.Ala137=) rs765476711
NM_006785.4(MALT1):c.426G>A (p.Gln142=)
NM_006785.4(MALT1):c.471A>G (p.Gln157=)
NM_006785.4(MALT1):c.499-13G>A
NM_006785.4(MALT1):c.499-18T>A
NM_006785.4(MALT1):c.499-8_499-5del rs756815958
NM_006785.4(MALT1):c.558C>A (p.Gly186=) rs2144361835
NM_006785.4(MALT1):c.627C>T (p.Cys209=)
NM_006785.4(MALT1):c.657T>C (p.Val219=) rs1221032758
NM_006785.4(MALT1):c.678G>A (p.Lys226=) rs1192402517
NM_006785.4(MALT1):c.687C>A (p.Ile229=)
NM_006785.4(MALT1):c.696A>G (p.Glu232=)
NM_006785.4(MALT1):c.702T>C (p.Thr234=)
NM_006785.4(MALT1):c.819G>A (p.Lys273=)
NM_006785.4(MALT1):c.829-20A>G
NM_006785.4(MALT1):c.829-4A>G
NM_006785.4(MALT1):c.864C>T (p.Tyr288=)
NM_006785.4(MALT1):c.873T>C (p.His291=) rs2144388982
NM_006785.4(MALT1):c.879T>C (p.Tyr293=) rs2144389003
NM_006785.4(MALT1):c.925+16C>T
NM_006785.4(MALT1):c.925+18A>G
NM_006785.4(MALT1):c.925+8G>A rs1421497811
NM_006785.4(MALT1):c.958+17G>A
NM_006785.4(MALT1):c.959-17C>T rs2144399095
NM_006785.4(MALT1):c.985+14A>G rs2144399244
NM_006785.4(MALT1):c.986-5T>C rs545727809

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.