ClinVar Miner

List of variants in gene TRAF3IP2 studied for candidiasis, familial, 8

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_147686.4(TRAF3IP2):c.969C>A (p.His323Gln) rs1043730 0.85701
NM_147686.4(TRAF3IP2):c.28G>A (p.Asp10Asn) rs33980500 0.09825
NM_147686.4(TRAF3IP2):c.191A>C (p.His64Pro) rs149246847 0.00175
NM_147686.4(TRAF3IP2):c.1184A>G (p.Asn395Ser) rs139767840 0.00174
NM_147686.4(TRAF3IP2):c.1233A>T (p.Thr411=) rs61757647 0.00168
NM_147686.4(TRAF3IP2):c.957C>A (p.Ser319Arg) rs146226365 0.00103
NM_147686.4(TRAF3IP2):c.1583A>G (p.His528Arg) rs202090066 0.00044
NM_147686.4(TRAF3IP2):c.1058G>A (p.Gly353Asp) rs148619849 0.00031
NM_147686.4(TRAF3IP2):c.1119G>A (p.Pro373=) rs370011231 0.00027
NM_147686.4(TRAF3IP2):c.8G>A (p.Arg3Gln) rs148778036 0.00015
NM_147686.4(TRAF3IP2):c.1089A>G (p.Ala363=) rs904037371 0.00012
NM_147686.4(TRAF3IP2):c.1020C>T (p.His340=) rs200703649 0.00011
NM_147686.4(TRAF3IP2):c.109C>T (p.Pro37Ser) rs748095541 0.00010
NM_147686.4(TRAF3IP2):c.1345C>T (p.Arg449Cys) rs200246882 0.00010
NM_147686.4(TRAF3IP2):c.1614C>T (p.Asn538=) rs186097801 0.00010
NM_147686.4(TRAF3IP2):c.1435G>A (p.Glu479Lys) rs149504543 0.00009
NM_147686.4(TRAF3IP2):c.1552-6C>A rs202020640 0.00009
NM_147686.4(TRAF3IP2):c.1377C>T (p.Ile459=) rs371382152 0.00008
NM_147686.4(TRAF3IP2):c.171C>T (p.Ser57=) rs144366791 0.00006
NM_147686.4(TRAF3IP2):c.1290+15C>T rs778369631 0.00005
NM_147686.4(TRAF3IP2):c.1378G>A (p.Val460Ile) rs775776262 0.00005
NM_147686.4(TRAF3IP2):c.1185T>C (p.Asn395=) rs753954583 0.00004
NM_147686.4(TRAF3IP2):c.1551+14G>C rs201855498 0.00004
NM_147686.4(TRAF3IP2):c.981C>T (p.Pro327=) rs112036127 0.00004
NM_147686.4(TRAF3IP2):c.1275T>C (p.Asn425=) rs571096374 0.00003
NM_147686.4(TRAF3IP2):c.1674C>A (p.Pro558=) rs769958417 0.00003
NM_147686.4(TRAF3IP2):c.167C>T (p.Ser56Phe) rs368757476 0.00003
NM_147686.4(TRAF3IP2):c.1022+7A>G rs759269153 0.00002
NM_147686.4(TRAF3IP2):c.1440T>G (p.Asp480Glu) rs141459820 0.00002
NM_147686.4(TRAF3IP2):c.154A>G (p.Met52Val) rs779302845 0.00002
NM_147686.4(TRAF3IP2):c.172G>A (p.Gly58Arg) rs201280730 0.00002
NM_147686.4(TRAF3IP2):c.830-14G>A rs753149212 0.00002
NM_147686.4(TRAF3IP2):c.1008G>A (p.Gly336=) rs761822683 0.00001
NM_147686.4(TRAF3IP2):c.1023-4C>G rs1795968896 0.00001
NM_147686.4(TRAF3IP2):c.1063C>G (p.Pro355Ala) rs760916707 0.00001
NM_147686.4(TRAF3IP2):c.107C>T (p.Ala36Val) rs769663442 0.00001
NM_147686.4(TRAF3IP2):c.1082G>A (p.Cys361Tyr) rs773316350 0.00001
NM_147686.4(TRAF3IP2):c.1193A>C (p.Glu398Ala) rs764227946 0.00001
NM_147686.4(TRAF3IP2):c.1224G>A (p.Ser408=) rs761644425 0.00001
NM_147686.4(TRAF3IP2):c.1266G>A (p.Leu422=) rs894860257 0.00001
NM_147686.4(TRAF3IP2):c.1328T>C (p.Ile443Thr) rs1197932494 0.00001
NM_147686.4(TRAF3IP2):c.1344G>A (p.Glu448=) rs200991285 0.00001
NM_147686.4(TRAF3IP2):c.1408G>A (p.Val470Met) rs1237812708 0.00001
NM_147686.4(TRAF3IP2):c.1457C>T (p.Thr486Ile) rs1419847496 0.00001
NM_147686.4(TRAF3IP2):c.1472G>A (p.Arg491Gln) rs764736740 0.00001
NM_147686.4(TRAF3IP2):c.1507A>G (p.Met503Val) rs1053340006 0.00001
NM_147686.4(TRAF3IP2):c.1524C>T (p.Ile508=) rs905169151 0.00001
NM_147686.4(TRAF3IP2):c.1692C>G (p.Pro564=) rs143248990 0.00001
NM_147686.4(TRAF3IP2):c.54G>T (p.Gln18His) rs901070290 0.00001
NM_147686.4(TRAF3IP2):c.868A>G (p.Ile290Val) rs773319517 0.00001
NM_147686.4(TRAF3IP2):c.869T>G (p.Ile290Ser) rs200074354 0.00001
NM_147686.4(TRAF3IP2):c.878C>G (p.Ala293Gly) rs1262799162 0.00001
NM_147686.4(TRAF3IP2):c.936G>A (p.Lys312=) rs1221925762 0.00001
NM_147686.4(TRAF3IP2):c.982G>A (p.Ala328Thr) rs751906100 0.00001
NM_147686.4(TRAF3IP2):c.993C>T (p.Asp331=) rs562058180 0.00001
NC_000006.11:g.(?_111901380)_(111913289_?)dup
NC_000006.12:g.(?_111559385)_(111592106_?)dup
NM_147686.4(TRAF3IP2):c.1004C>T (p.Pro335Leu)
NM_147686.4(TRAF3IP2):c.1006G>C (p.Gly336Arg)
NM_147686.4(TRAF3IP2):c.1021C>G (p.Gln341Glu) rs1239436121
NM_147686.4(TRAF3IP2):c.1022+16C>A
NM_147686.4(TRAF3IP2):c.1022+3A>G rs1562427078
NM_147686.4(TRAF3IP2):c.1023-3T>C rs2128375807
NM_147686.4(TRAF3IP2):c.1032A>G (p.Pro344=)
NM_147686.4(TRAF3IP2):c.1044_1084del (p.Pro349fs) rs1583225922
NM_147686.4(TRAF3IP2):c.1049A>G (p.Asn350Ser) rs2128375781
NM_147686.4(TRAF3IP2):c.1058G>C (p.Gly353Ala) rs148619849
NM_147686.4(TRAF3IP2):c.1064C>T (p.Pro355Leu)
NM_147686.4(TRAF3IP2):c.1071G>A (p.Glu357=)
NM_147686.4(TRAF3IP2):c.1121C>A (p.Ser374Tyr) rs1795962978
NM_147686.4(TRAF3IP2):c.1126G>A (p.Ala376Thr) rs2128375712
NM_147686.4(TRAF3IP2):c.1201+12G>C rs1388493620
NM_147686.4(TRAF3IP2):c.1201+1G>C
NM_147686.4(TRAF3IP2):c.1201+2T>C
NM_147686.4(TRAF3IP2):c.1201C>T (p.Arg401Trp) rs767596361
NM_147686.4(TRAF3IP2):c.1202-16A>G rs2128374377
NM_147686.4(TRAF3IP2):c.1222del (p.Ser408fs) rs2128374357
NM_147686.4(TRAF3IP2):c.1236T>C (p.Ala412=)
NM_147686.4(TRAF3IP2):c.1249A>G (p.Lys417Glu) rs1253864619
NM_147686.4(TRAF3IP2):c.124A>G (p.Met42Val)
NM_147686.4(TRAF3IP2):c.1254C>T (p.Phe418=)
NM_147686.4(TRAF3IP2):c.1290+1_1290+2del
NM_147686.4(TRAF3IP2):c.1291-13dup rs566584632
NM_147686.4(TRAF3IP2):c.1291-14C>G rs2128372070
NM_147686.4(TRAF3IP2):c.1291-5del rs566584632
NM_147686.4(TRAF3IP2):c.1291-8T>G rs2128372058
NM_147686.4(TRAF3IP2):c.133A>G (p.Asn45Asp)
NM_147686.4(TRAF3IP2):c.1345C>A (p.Arg449Ser)
NM_147686.4(TRAF3IP2):c.1346G>A (p.Arg449His)
NM_147686.4(TRAF3IP2):c.135C>G (p.Asn45Lys)
NM_147686.4(TRAF3IP2):c.1360-13C>G rs2128371456
NM_147686.4(TRAF3IP2):c.1360-15C>G
NM_147686.4(TRAF3IP2):c.1360-9C>G rs1795644367
NM_147686.4(TRAF3IP2):c.1365C>T (p.Thr455=) rs200213270
NM_147686.4(TRAF3IP2):c.1370T>C (p.Met457Thr)
NM_147686.4(TRAF3IP2):c.1396T>A (p.Tyr466Asn) rs1795641126
NM_147686.4(TRAF3IP2):c.1407C>T (p.Asp469=)
NM_147686.4(TRAF3IP2):c.1416C>T (p.Gly472=)
NM_147686.4(TRAF3IP2):c.1417G>A (p.Ala473Thr) rs111815306
NM_147686.4(TRAF3IP2):c.1434C>T (p.Asp478=)
NM_147686.4(TRAF3IP2):c.144T>G (p.Ser48=)
NM_147686.4(TRAF3IP2):c.1471C>T (p.Arg491Ter)
NM_147686.4(TRAF3IP2):c.1477-13T>A
NM_147686.4(TRAF3IP2):c.1477-15T>C
NM_147686.4(TRAF3IP2):c.152C>T (p.Thr51Ile)
NM_147686.4(TRAF3IP2):c.1530G>A (p.Val510=)
NM_147686.4(TRAF3IP2):c.1551+10_1551+13del rs749643257
NM_147686.4(TRAF3IP2):c.1551+14_1551+17del rs576438307
NM_147686.4(TRAF3IP2):c.1551+17del rs1477878905
NM_147686.4(TRAF3IP2):c.1552G>T (p.Glu518Ter) rs1562415808
NM_147686.4(TRAF3IP2):c.1564A>G (p.Thr522Ala) rs2128368098
NM_147686.4(TRAF3IP2):c.1574A>G (p.Gln525Arg) rs2128368087
NM_147686.4(TRAF3IP2):c.1575G>A (p.Gln525=) rs2128368085
NM_147686.4(TRAF3IP2):c.1580C>T (p.Thr527Ile) rs397518485
NM_147686.4(TRAF3IP2):c.1597C>T (p.Pro533Ser)
NM_147686.4(TRAF3IP2):c.1613dup (p.Asn538fs) rs777439425
NM_147686.4(TRAF3IP2):c.1636G>A (p.Glu546Lys)
NM_147686.4(TRAF3IP2):c.1677C>G (p.Thr559=)
NM_147686.4(TRAF3IP2):c.1680T>C (p.Leu560=)
NM_147686.4(TRAF3IP2):c.1681C>T (p.Gln561Ter) rs1562415669
NM_147686.4(TRAF3IP2):c.1686G>T (p.Val562=)
NM_147686.4(TRAF3IP2):c.169T>C (p.Ser57Pro)
NM_147686.4(TRAF3IP2):c.16C>G (p.Pro6Ala) rs1471659672
NM_147686.4(TRAF3IP2):c.43T>G (p.Tyr15Asp)
NM_147686.4(TRAF3IP2):c.6C>A (p.Asn2Lys) rs1796544834
NM_147686.4(TRAF3IP2):c.72A>G (p.Pro24=)
NM_147686.4(TRAF3IP2):c.7C>T (p.Arg3Ter)
NM_147686.4(TRAF3IP2):c.830-7C>T
NM_147686.4(TRAF3IP2):c.83C>G (p.Pro28Arg) rs369345925
NM_147686.4(TRAF3IP2):c.83C>T (p.Pro28Leu) rs369345925
NM_147686.4(TRAF3IP2):c.840C>T (p.Asp280=)
NM_147686.4(TRAF3IP2):c.854C>A (p.Ala285Asp)
NM_147686.4(TRAF3IP2):c.874C>A (p.Pro292Thr) rs1402886359
NM_147686.4(TRAF3IP2):c.876G>A (p.Pro292=)
NM_147686.4(TRAF3IP2):c.88G>A (p.Glu30Lys) rs762683742
NM_147686.4(TRAF3IP2):c.893C>A (p.Pro298His)
NM_147686.4(TRAF3IP2):c.906C>T (p.Ala302=) rs2128377807
NM_147686.4(TRAF3IP2):c.926_1022+148delinsTGACCTGAAAAGTCTATATTGGGCATTCCACTATGTGACTTGCTCACTAACGTGGGTTAGCAAACCTATAGAGAATTCTGTTACATCTTCATTGCATTGGCATAATTCCTTTCCATGTTAAAAATGCCTGAAGGTTGGGCCTGTCATACTTACTGGTGCCTTGGAAGCCCCGGAAAGGAGCAGTCTCTCTGTGCGGGCCTCTCTTCGTGGTCCCAGGGGCTGGGATAATTCAGGATAACCTTCTGCACAG rs1796107143
NM_147686.4(TRAF3IP2):c.934_936del (p.Lys312del)
NM_147686.4(TRAF3IP2):c.959C>T (p.Pro320Leu)
NM_147686.4(TRAF3IP2):c.969C>T (p.His323=)
NM_147686.4(TRAF3IP2):c.984A>G (p.Ala328=)
NM_147686.4(TRAF3IP2):c.989G>C (p.Arg330Thr)
NM_147686.4(TRAF3IP2):c.99ACC[3] (p.Pro35dup) rs142054894

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