ClinVar Miner

List of variants in gene TXNRD2 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala) rs199510610 0.00042
NM_006440.5(TXNRD2):c.221C>G (p.Ser74Cys) rs200942544 0.00019
NM_006440.5(TXNRD2):c.662C>T (p.Thr221Met) rs188258380 0.00019
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 0.00016
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp) rs61736941 0.00014
NM_006440.5(TXNRD2):c.199G>A (p.Val67Met) rs372803804 0.00014
NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile) rs201658653 0.00014
NM_006440.5(TXNRD2):c.623G>A (p.Ser208Asn) rs201531690 0.00012
NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn) rs369142382 0.00011
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln) rs373979810 0.00010
NM_006440.5(TXNRD2):c.1549C>T (p.Pro517Ser) rs756196216 0.00009
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys) rs557142042 0.00009
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr) rs373839226 0.00008
NM_006440.5(TXNRD2):c.611A>G (p.Tyr204Cys) rs199765650 0.00007
NM_006440.5(TXNRD2):c.1091G>A (p.Arg364Gln) rs199734322 0.00006
NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly) rs371547623 0.00006
NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr) rs377598025 0.00006
NM_006440.5(TXNRD2):c.1559C>G (p.Thr520Arg) rs774708598 0.00006
NM_006440.5(TXNRD2):c.820C>T (p.Arg274Trp) rs571571452 0.00006
NM_006440.5(TXNRD2):c.1348-2A>G rs768600057 0.00005
NM_006440.5(TXNRD2):c.235C>T (p.Arg79Trp) rs762060966 0.00005
NM_006440.5(TXNRD2):c.850G>C (p.Val284Leu) rs201177571 0.00005
NM_006440.5(TXNRD2):c.1001C>T (p.Thr334Ile) rs780014083 0.00004
NM_006440.5(TXNRD2):c.1054C>A (p.Pro352Thr) rs1388529732 0.00004
NM_006440.5(TXNRD2):c.1376T>C (p.Leu459Pro) rs776104767 0.00004
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg) rs759298418 0.00004
NM_006440.5(TXNRD2):c.1406A>G (p.Asn469Ser) rs757704344 0.00004
NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro) rs756559860 0.00004
NM_006440.5(TXNRD2):c.1514T>A (p.Val505Asp) rs759613137 0.00004
NM_006440.5(TXNRD2):c.40C>T (p.Arg14Cys) rs1259706318 0.00004
NM_006440.5(TXNRD2):c.449+4C>T rs755751835 0.00004
NM_006440.5(TXNRD2):c.461A>T (p.Tyr154Phe) rs886509891 0.00004
NM_006440.5(TXNRD2):c.581A>G (p.Tyr194Cys) rs1219814151 0.00004
NM_006440.5(TXNRD2):c.595G>A (p.Glu199Lys) rs763888077 0.00004
NM_006440.5(TXNRD2):c.1446G>T (p.Lys482Asn) rs371797598 0.00003
NM_006440.5(TXNRD2):c.1474C>T (p.Arg492Trp) rs146133764 0.00003
NM_006440.5(TXNRD2):c.1535G>A (p.Arg512His) rs375708279 0.00003
NM_006440.5(TXNRD2):c.544G>A (p.Asp182Asn) rs752857898 0.00003
NM_006440.5(TXNRD2):c.758T>C (p.Leu253Pro) rs773449032 0.00003
NM_006440.5(TXNRD2):c.112C>T (p.Arg38Trp) rs1044687486 0.00002
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) rs759374389 0.00002
NM_006440.5(TXNRD2):c.1511T>C (p.Val504Ala) rs769258408 0.00002
NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys) rs201943415 0.00002
NM_006440.5(TXNRD2):c.214G>A (p.Glu72Lys) rs779740988 0.00002
NM_006440.5(TXNRD2):c.529-5C>T rs766288973 0.00002
NM_006440.5(TXNRD2):c.761G>A (p.Arg254His) rs994880290 0.00002
NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp) rs200981451 0.00002
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val) rs543290126 0.00002
NM_006440.5(TXNRD2):c.969A>C (p.Arg323Ser) rs765171416 0.00002
NM_006440.5(TXNRD2):c.1086+4C>T rs753380240 0.00001
NM_006440.5(TXNRD2):c.1087-2A>G rs1289412583 0.00001
NM_006440.5(TXNRD2):c.1169T>G (p.Met390Arg) rs758236709 0.00001
NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys) rs781432469 0.00001
NM_006440.5(TXNRD2):c.1289A>C (p.His430Pro) rs376463546 0.00001
NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys) rs749643976 0.00001
NM_006440.5(TXNRD2):c.1412G>A (p.Gly471Asp) rs754916024 0.00001
NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys) rs766076027 0.00001
NM_006440.5(TXNRD2):c.1460A>G (p.Tyr487Cys) rs367711380 0.00001
NM_006440.5(TXNRD2):c.156G>A (p.Leu52=) rs939642675 0.00001
NM_006440.5(TXNRD2):c.172+3A>G rs923193498 0.00001
NM_006440.5(TXNRD2):c.224C>T (p.Pro75Leu) rs888739263 0.00001
NM_006440.5(TXNRD2):c.238T>C (p.Trp80Arg) rs762714876 0.00001
NM_006440.5(TXNRD2):c.338A>G (p.Tyr113Cys) rs905391308 0.00001
NM_006440.5(TXNRD2):c.449G>A (p.Arg150Lys) rs755356370 0.00001
NM_006440.5(TXNRD2):c.450-1G>A rs755703700 0.00001
NM_006440.5(TXNRD2):c.497C>T (p.Thr166Met) rs553337931 0.00001
NM_006440.5(TXNRD2):c.508G>A (p.Val170Ile) rs574389555 0.00001
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val) rs373970291 0.00001
NM_006440.5(TXNRD2):c.627T>G (p.Asp209Glu) rs376336621 0.00001
NM_006440.5(TXNRD2):c.715G>A (p.Gly239Arg) rs978493213 0.00001
NM_006440.5(TXNRD2):c.720T>G (p.Ile240Met) rs1246351128 0.00001
NM_006440.5(TXNRD2):c.904G>A (p.Gly302Ser) rs781228620 0.00001
NM_006440.5(TXNRD2):c.104-3C>T
NM_006440.5(TXNRD2):c.104C>T (p.Ala35Val)
NM_006440.5(TXNRD2):c.1077_1078insCATTG (p.Val360fs)
NM_006440.5(TXNRD2):c.1081G>C (p.Val361Leu)
NM_006440.5(TXNRD2):c.1088G>A (p.Gly363Glu)
NM_006440.5(TXNRD2):c.1124G>T (p.Gly375Val)
NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln) rs774909194
NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg) rs192869629
NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg) rs528059873
NM_006440.5(TXNRD2):c.1180A>G (p.Asn394Asp)
NM_006440.5(TXNRD2):c.1183-5T>C
NM_006440.5(TXNRD2):c.1205C>T (p.Pro402Leu)
NM_006440.5(TXNRD2):c.1250C>T (p.Ala417Val)
NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His) rs1388670551
NM_006440.5(TXNRD2):c.1256A>C (p.His419Pro)
NM_006440.5(TXNRD2):c.1258G>A (p.Gly420Arg)
NM_006440.5(TXNRD2):c.1262A>G (p.Gln421Arg)
NM_006440.5(TXNRD2):c.127C>G (p.Leu43Val)
NM_006440.5(TXNRD2):c.128T>C (p.Leu43Pro)
NM_006440.5(TXNRD2):c.1350G>T (p.Met450Ile)
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs) rs758790391
NM_006440.5(TXNRD2):c.1407C>T (p.Asn469=) rs200063300
NM_006440.5(TXNRD2):c.1408G>A (p.Ala470Thr)
NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala)
NM_006440.5(TXNRD2):c.1431T>A (p.Phe477Leu)
NM_006440.5(TXNRD2):c.1445+5G>C
NM_006440.5(TXNRD2):c.1451G>A (p.Gly484Glu) rs1409074647
NM_006440.5(TXNRD2):c.1471A>G (p.Met491Val)
NM_006440.5(TXNRD2):c.1478C>T (p.Thr493Ile)
NM_006440.5(TXNRD2):c.1496C>T (p.Thr499Ile)
NM_006440.5(TXNRD2):c.1498T>C (p.Cys500Arg)
NM_006440.5(TXNRD2):c.1553C>T (p.Thr518Met)
NM_006440.5(TXNRD2):c.1573T>C (p.Ter525Gln)
NM_006440.5(TXNRD2):c.172+2del
NM_006440.5(TXNRD2):c.175G>C (p.Ala59Pro)
NM_006440.5(TXNRD2):c.175_177delinsACT (p.Ala59Thr)
NM_006440.5(TXNRD2):c.200T>C (p.Val67Ala)
NM_006440.5(TXNRD2):c.229+5G>C
NM_006440.5(TXNRD2):c.230-4C>T
NM_006440.5(TXNRD2):c.242G>T (p.Gly81Val)
NM_006440.5(TXNRD2):c.250G>A (p.Gly84Ser)
NM_006440.5(TXNRD2):c.268G>A (p.Gly90Ser)
NM_006440.5(TXNRD2):c.271T>C (p.Cys91Arg)
NM_006440.5(TXNRD2):c.299C>A (p.Ala100Glu) rs767878935
NM_006440.5(TXNRD2):c.314G>A (p.Gly105Asp)
NM_006440.5(TXNRD2):c.335A>G (p.Asn112Ser)
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His) rs869025560
NM_006440.5(TXNRD2):c.350T>C (p.Val117Ala) rs770727890
NM_006440.5(TXNRD2):c.35G>A (p.Gly12Glu)
NM_006440.5(TXNRD2):c.364C>G (p.Pro122Ala)
NM_006440.5(TXNRD2):c.365C>T (p.Pro122Leu)
NM_006440.5(TXNRD2):c.373T>C (p.Trp125Arg)
NM_006440.5(TXNRD2):c.375-2A>G
NM_006440.5(TXNRD2):c.37G>A (p.Gly13Arg)
NM_006440.5(TXNRD2):c.391del (p.Ala131fs)
NM_006440.5(TXNRD2):c.392C>G (p.Ala131Gly) rs368359642
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu) rs2146120283
NM_006440.5(TXNRD2):c.420C>G (p.Asn140Lys)
NM_006440.5(TXNRD2):c.431G>A (p.Arg144His) rs748674090
NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu)
NM_006440.5(TXNRD2):c.449+1G>T
NM_006440.5(TXNRD2):c.490G>A (p.Glu164Lys)
NM_006440.5(TXNRD2):c.512C>T (p.Ala171Val)
NM_006440.5(TXNRD2):c.516del (p.Gly173fs)
NM_006440.5(TXNRD2):c.528+2T>C rs775856560
NM_006440.5(TXNRD2):c.544G>C (p.Asp182His)
NM_006440.5(TXNRD2):c.560C>T (p.Ala187Val)
NM_006440.5(TXNRD2):c.587C>A (p.Thr196Lys)
NM_006440.5(TXNRD2):c.591+1G>A rs200610775
NM_006440.5(TXNRD2):c.591+5G>C
NM_006440.5(TXNRD2):c.599G>A (p.Gly200Asp) rs112854076
NM_006440.5(TXNRD2):c.620C>T (p.Thr207Ile)
NM_006440.5(TXNRD2):c.664T>C (p.Leu222=)
NM_006440.5(TXNRD2):c.670G>T (p.Val224Phe)
NM_006440.5(TXNRD2):c.682+5C>G
NM_006440.5(TXNRD2):c.683-2A>C
NM_006440.5(TXNRD2):c.697T>A (p.Cys233Ser)
NM_006440.5(TXNRD2):c.704G>A (p.Gly235Asp)
NM_006440.5(TXNRD2):c.706T>C (p.Phe236Leu)
NM_006440.5(TXNRD2):c.709C>T (p.Leu237Phe)
NM_006440.5(TXNRD2):c.739ATG[1] (p.Met248del)
NM_006440.5(TXNRD2):c.742A>T (p.Met248Leu)
NM_006440.5(TXNRD2):c.748A>G (p.Ser250Gly)
NM_006440.5(TXNRD2):c.751A>C (p.Ile251Leu)
NM_006440.5(TXNRD2):c.754C>A (p.Pro252Thr)
NM_006440.5(TXNRD2):c.763G>A (p.Gly255Ser) rs76079250
NM_006440.5(TXNRD2):c.769G>A (p.Asp257Asn)
NM_006440.5(TXNRD2):c.799C>G (p.His267Asp)
NM_006440.5(TXNRD2):c.806C>T (p.Ala269Val)
NM_006440.5(TXNRD2):c.812A>G (p.His271Arg)
NM_006440.5(TXNRD2):c.815G>A (p.Gly272Asp)
NM_006440.5(TXNRD2):c.895A>T (p.Ser299Cys)
NM_006440.5(TXNRD2):c.917C>G (p.Thr306Arg)
NM_006440.5(TXNRD2):c.928G>A (p.Asp310Asn)
NM_006440.5(TXNRD2):c.941G>A (p.Trp314Ter)
NM_006440.5(TXNRD2):c.955G>A (p.Val319Ile)
NM_006440.5(TXNRD2):c.958C>T (p.Pro320Ser) rs1938879786
NM_006440.5(TXNRD2):c.965C>T (p.Thr322Ile)
NM_006440.5(TXNRD2):c.967A>G (p.Arg323Gly)

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