ClinVar Miner

List of variants reported as uncertain significance for combined immunodeficiency due to MALT1 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_006785.4(MALT1):c.649+9C>T rs200919386 0.00088
NM_006785.4(MALT1):c.2200A>G (p.Asn734Asp) rs372447468 0.00041
NM_006785.4(MALT1):c.824A>G (p.Tyr275Cys) rs145169756 0.00041
NM_006785.4(MALT1):c.446G>A (p.Arg149Gln) rs147414021 0.00028
NM_006785.4(MALT1):c.2195T>C (p.Met732Thr) rs141329024 0.00026
NM_006785.4(MALT1):c.2371G>A (p.Ala791Thr) rs146335154 0.00020
NM_006785.4(MALT1):c.1238C>T (p.Ala413Val) rs146860698 0.00016
NM_006785.4(MALT1):c.133C>G (p.Leu45Val) rs549192343 0.00016
NM_006785.4(MALT1):c.1753+4C>T rs376666120 0.00013
NM_006785.4(MALT1):c.1282G>A (p.Val428Ile) rs140664950 0.00011
NM_006785.4(MALT1):c.41C>G (p.Ser14Trp) rs941975162 0.00011
NM_006785.4(MALT1):c.155G>A (p.Arg52Gln) rs893459894 0.00010
NM_006785.4(MALT1):c.92A>G (p.Asn31Ser) rs888829305 0.00004
NM_006785.4(MALT1):c.1894G>A (p.Val632Ile) rs564979419 0.00003
NM_006785.4(MALT1):c.2085G>T (p.Leu695Phe) rs747407753 0.00003
NM_006785.4(MALT1):c.517T>C (p.Ser173Pro) rs763791134 0.00003
NM_006785.4(MALT1):c.641G>T (p.Ser214Ile) rs150590191 0.00003
NM_006785.4(MALT1):c.1429T>G (p.Leu477Val) rs756679089 0.00002
NM_006785.4(MALT1):c.1911+4A>G rs746121335 0.00002
NM_006785.4(MALT1):c.2342G>A (p.Arg781Gln) rs375148474 0.00002
NM_006785.4(MALT1):c.2408T>C (p.Val803Ala) rs747603313 0.00002
NM_006785.4(MALT1):c.25C>G (p.Gln9Glu) rs1267560603 0.00002
NM_006785.4(MALT1):c.364C>T (p.Leu122Phe) rs752277906 0.00002
NM_006785.4(MALT1):c.664G>A (p.Val222Ile) rs756127486 0.00002
NM_006785.4(MALT1):c.700A>G (p.Thr234Ala) rs748542076 0.00002
NM_006785.4(MALT1):c.887G>A (p.Arg296Gln) rs753977115 0.00002
NM_006785.4(MALT1):c.1018+6T>G rs1422799994 0.00001
NM_006785.4(MALT1):c.1756C>A (p.Leu586Ile) rs372665783 0.00001
NM_006785.4(MALT1):c.1820A>T (p.Glu607Val) rs1568157422 0.00001
NM_006785.4(MALT1):c.1868C>T (p.Pro623Leu) rs1004957123 0.00001
NM_006785.4(MALT1):c.1875A>G (p.Ile625Met) rs567205027 0.00001
NM_006785.4(MALT1):c.1898C>T (p.Thr633Ile) rs776118428 0.00001
NM_006785.4(MALT1):c.1985_1987del (p.Asp662_Leu663delinsVal) rs772171646 0.00001
NM_006785.4(MALT1):c.202C>A (p.Arg68Ser) rs1020525635 0.00001
NM_006785.4(MALT1):c.209+4A>G rs1418604119 0.00001
NM_006785.4(MALT1):c.2110G>C (p.Glu704Gln) rs374978445 0.00001
NM_006785.4(MALT1):c.2156G>A (p.Arg719Gln) rs1201771579 0.00001
NM_006785.4(MALT1):c.2212C>A (p.Gln738Lys) rs2055387209 0.00001
NM_006785.4(MALT1):c.2261A>G (p.Gln754Arg) rs35448733 0.00001
NM_006785.4(MALT1):c.2265C>G (p.Asp755Glu) rs1389783303 0.00001
NM_006785.4(MALT1):c.2284C>T (p.His762Tyr) rs150624858 0.00001
NM_006785.4(MALT1):c.2290C>T (p.His764Tyr) rs574490390 0.00001
NM_006785.4(MALT1):c.2320G>C (p.Ala774Pro) rs1251356443 0.00001
NM_006785.4(MALT1):c.2333A>G (p.His778Arg) rs541518120 0.00001
NM_006785.4(MALT1):c.2341C>T (p.Arg781Trp) rs1459153703 0.00001
NM_006785.4(MALT1):c.2351A>T (p.Asp784Val) rs904452707 0.00001
NM_006785.4(MALT1):c.2435C>T (p.Pro812Leu) rs1313931420 0.00001
NM_006785.4(MALT1):c.28G>A (p.Ala10Thr) rs1486051104 0.00001
NM_006785.4(MALT1):c.337A>G (p.Met113Val) rs1050645088 0.00001
NM_006785.4(MALT1):c.471A>T (p.Gln157His) rs566910582 0.00001
NM_006785.4(MALT1):c.488T>C (p.Met163Thr) rs750290078 0.00001
NM_006785.4(MALT1):c.628G>A (p.Asp210Asn) rs775236927 0.00001
NM_006785.4(MALT1):c.67G>A (p.Ala23Thr) rs994799429 0.00001
NM_006785.4(MALT1):c.71C>T (p.Pro24Leu) rs1172405267 0.00001
NM_006785.4(MALT1):c.900T>G (p.Asp300Glu) rs1308485381 0.00001
NM_006785.4(MALT1):c.919A>C (p.Ile307Leu) rs1259791366 0.00001
NM_006785.4(MALT1):c.959A>G (p.Asp320Gly) rs762925433 0.00001
NC_000018.10:g.(?_58671624)_(58747862_?)dup
NC_000018.9:g.(?_55217944)_(58039582_?)dup
NC_000018.9:g.(?_56338876)_(56339104_?)dup
NC_000018.9:g.(?_56411550)_(56415074_?)del
NC_000018.9:g.(?_56411550)_(56415074_?)dup
NM_006785.4(MALT1):c.1052T>G (p.Met351Arg)
NM_006785.4(MALT1):c.1060C>T (p.Arg354Trp)
NM_006785.4(MALT1):c.1061G>C (p.Arg354Pro) rs777036725
NM_006785.4(MALT1):c.106C>T (p.Pro36Ser) rs866625194
NM_006785.4(MALT1):c.1090G>A (p.Val364Met)
NM_006785.4(MALT1):c.1136A>C (p.Lys379Thr)
NM_006785.4(MALT1):c.1174C>T (p.Arg392Cys)
NM_006785.4(MALT1):c.1184T>C (p.Val395Ala)
NM_006785.4(MALT1):c.1258T>A (p.Phe420Ile)
NM_006785.4(MALT1):c.1295A>G (p.Asn432Ser)
NM_006785.4(MALT1):c.1304G>C (p.Arg435Thr) rs974213580
NM_006785.4(MALT1):c.1307C>G (p.Ser436Cys)
NM_006785.4(MALT1):c.1310A>G (p.Glu437Gly)
NM_006785.4(MALT1):c.1324G>A (p.Val442Ile)
NM_006785.4(MALT1):c.1359A>C (p.Glu453Asp) rs2055183266
NM_006785.4(MALT1):c.136G>A (p.Asp46Asn) rs2144285784
NM_006785.4(MALT1):c.1401-15G>T rs371051170
NM_006785.4(MALT1):c.1408T>C (p.Tyr470His)
NM_006785.4(MALT1):c.1417A>T (p.Thr473Ser) rs1602335279
NM_006785.4(MALT1):c.143C>G (p.Ala48Gly) rs1602263367
NM_006785.4(MALT1):c.1476-15_1476-10del rs747063160
NM_006785.4(MALT1):c.1487C>T (p.Ala496Val)
NM_006785.4(MALT1):c.1541T>G (p.Phe514Cys) rs2144466203
NM_006785.4(MALT1):c.1587G>A (p.Leu529=)
NM_006785.4(MALT1):c.1666G>A (p.Glu556Lys) rs1568155735
NM_006785.4(MALT1):c.1666_1668del (p.Glu556del) rs1602342320
NM_006785.4(MALT1):c.1687C>T (p.Pro563Ser) rs930567184
NM_006785.4(MALT1):c.1716A>C (p.Glu572Asp) rs1434283210
NM_006785.4(MALT1):c.1726C>T (p.Arg576Trp)
NM_006785.4(MALT1):c.1730A>G (p.Asn577Ser) rs1288772521
NM_006785.4(MALT1):c.1750C>T (p.His584Tyr) rs1048929396
NM_006785.4(MALT1):c.1762G>C (p.Glu588Gln)
NM_006785.4(MALT1):c.1768A>G (p.Met590Val)
NM_006785.4(MALT1):c.1852A>G (p.Ile618Val) rs2144488994
NM_006785.4(MALT1):c.1856T>C (p.Val619Ala)
NM_006785.4(MALT1):c.1888G>A (p.Ala630Thr)
NM_006785.4(MALT1):c.1903T>C (p.Phe635Leu)
NM_006785.4(MALT1):c.190C>T (p.Arg64Cys)
NM_006785.4(MALT1):c.1911+3_1911+6del rs1568157508
NM_006785.4(MALT1):c.1919A>G (p.Asp640Gly) rs2144491140
NM_006785.4(MALT1):c.1975G>T (p.Val659Leu) rs2055357208
NM_006785.4(MALT1):c.1993A>G (p.Lys665Glu)
NM_006785.4(MALT1):c.2059T>A (p.Cys687Ser)
NM_006785.4(MALT1):c.2073G>C (p.Gln691His) rs144005348
NM_006785.4(MALT1):c.2089G>A (p.Asp697Asn)
NM_006785.4(MALT1):c.210-5T>G rs774420660
NM_006785.4(MALT1):c.2117A>G (p.Asn706Ser) rs865845840
NM_006785.4(MALT1):c.2119G>T (p.Val707Phe) rs1568159112
NM_006785.4(MALT1):c.2152del (p.His718fs) rs1381875884
NM_006785.4(MALT1):c.2172G>T (p.Lys724Asn)
NM_006785.4(MALT1):c.2188T>C (p.Cys730Arg) rs2144494946
NM_006785.4(MALT1):c.2191C>G (p.Leu731Val) rs2055386752
NM_006785.4(MALT1):c.2203G>T (p.Gly735Cys)
NM_006785.4(MALT1):c.2273A>G (p.His758Arg) rs2055388108
NM_006785.4(MALT1):c.2326A>G (p.Ser776Gly)
NM_006785.4(MALT1):c.2326del (p.Ser776fs)
NM_006785.4(MALT1):c.2327G>A (p.Ser776Asn)
NM_006785.4(MALT1):c.2334T>G (p.His778Gln) rs752917364
NM_006785.4(MALT1):c.2338_2340dup (p.Ser780dup) rs777601750
NM_006785.4(MALT1):c.2351_2371dup (p.Asp784_Phe790dup) rs747062590
NM_006785.4(MALT1):c.2386_2400dup (p.Cys796_Arg800dup) rs2055390097
NM_006785.4(MALT1):c.2390A>T (p.His797Leu) rs2055390134
NM_006785.4(MALT1):c.23T>C (p.Leu8Pro)
NM_006785.4(MALT1):c.2402_2404dup (p.Ser801dup) rs1244830612
NM_006785.4(MALT1):c.2475A>C (p.Ter825Cys) rs985258485
NM_006785.4(MALT1):c.253G>A (p.Glu85Lys) rs1229588896
NM_006785.4(MALT1):c.26A>G (p.Gln9Arg) rs2144285316
NM_006785.4(MALT1):c.299G>A (p.Gly100Asp) rs2144311117
NM_006785.4(MALT1):c.344A>G (p.His115Arg) rs2144311226
NM_006785.4(MALT1):c.376+5G>A rs1052913408
NM_006785.4(MALT1):c.379A>G (p.Ile127Val) rs2054588904
NM_006785.4(MALT1):c.38C>T (p.Pro13Leu) rs2054162642
NM_006785.4(MALT1):c.41C>T (p.Ser14Leu)
NM_006785.4(MALT1):c.475C>A (p.Gln159Lys) rs1406591737
NM_006785.4(MALT1):c.49C>T (p.Pro17Ser) rs2054163065
NM_006785.4(MALT1):c.511A>T (p.Asn171Tyr) rs984718629
NM_006785.4(MALT1):c.512A>G (p.Asn171Ser) rs2144361773
NM_006785.4(MALT1):c.53C>T (p.Thr18Met) rs1602263180
NM_006785.4(MALT1):c.542A>G (p.His181Arg)
NM_006785.4(MALT1):c.56G>T (p.Gly19Val)
NM_006785.4(MALT1):c.583A>G (p.Asn195Asp) rs2144361887
NM_006785.4(MALT1):c.665T>C (p.Val222Ala) rs2144387267
NM_006785.4(MALT1):c.672A>T (p.Glu224Asp) rs2144387302
NM_006785.4(MALT1):c.745G>C (p.Val249Leu) rs2144387542
NM_006785.4(MALT1):c.806A>G (p.His269Arg) rs2054803110
NM_006785.4(MALT1):c.829G>A (p.Val277Met)
NM_006785.4(MALT1):c.82G>T (p.Ala28Ser)
NM_006785.4(MALT1):c.841G>A (p.Asp281Asn) rs750663793
NM_006785.4(MALT1):c.853C>G (p.Gln285Glu) rs2054809764
NM_006785.4(MALT1):c.863A>G (p.Tyr288Cys)
NM_006785.4(MALT1):c.878A>C (p.Tyr293Ser) rs1445398673
NM_006785.4(MALT1):c.880A>C (p.Asn294His) rs2144389020
NM_006785.4(MALT1):c.88C>G (p.Leu30Val) rs2144285643
NM_006785.4(MALT1):c.899A>G (p.Asp300Gly) rs753211409
NM_006785.4(MALT1):c.932C>T (p.Thr311Ile) rs2144391492
NM_006785.4(MALT1):c.938A>G (p.Glu313Gly)
NM_006785.4(MALT1):c.950G>A (p.Cys317Tyr) rs2054823149
NM_006785.4(MALT1):c.952A>G (p.Thr318Ala) rs1403277586
NM_006785.4(MALT1):c.985+6T>C

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