ClinVar Miner

List of variants in gene TCIRG1 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_006019.4(TCIRG1):c.1554+2T>A rs761918801 0.00003
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199 0.00002
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) rs1489993984 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1674G>A (p.Val558=) rs745971874 0.00001
NM_006019.4(TCIRG1):c.196+5G>A rs1470999303 0.00001
NM_006019.4(TCIRG1):c.2014-1G>A rs1197237618 0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter) rs1590817956 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=) rs1293760338 0.00001
NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter) rs1003722483 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NC_000011.10:g.(?_68039120)_(68041841_?)del
NC_000011.9:g.(?_67814890)_(67815449_?)del
NC_000011.9:g.(?_67814890)_(67818296_?)del
NC_000011.9:g.(?_67816336)_(67818296_?)del
NM_001351059.2(TCIRG1):c.-262_-237del rs2134438856
NM_006019.4(TCIRG1):c.100_101delinsA (p.Leu34fs) rs1855151891
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) rs1159666762
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
NM_006019.4(TCIRG1):c.1066del (p.Asp356fs)
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) rs776436008
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) rs1269558164
NM_006019.4(TCIRG1):c.1144_1147dup (p.Tyr383fs)
NM_006019.4(TCIRG1):c.1165+1G>C rs780745598
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1176del (p.Ile393fs)
NM_006019.4(TCIRG1):c.1191del (p.Phe398fs)
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
NM_006019.4(TCIRG1):c.1230del (p.Leu411fs) rs2134454279
NM_006019.4(TCIRG1):c.1249del (p.Ala417fs) rs1839400126
NM_006019.4(TCIRG1):c.1305+1G>A rs2134454644
NM_006019.4(TCIRG1):c.1305+1G>T
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1312C>T (p.Gln438Ter) rs1418193014
NM_006019.4(TCIRG1):c.1320_1321del (p.Phe441fs) rs2134455003
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs) rs747511049
NM_006019.4(TCIRG1):c.1349dup (p.Met450fs) rs2134455159
NM_006019.4(TCIRG1):c.1370_1384del (p.Thr457_Tyr461del)
NM_006019.4(TCIRG1):c.1371del (p.Gly458fs) rs2134455254
NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del) rs771271907
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter) rs137853149
NM_006019.4(TCIRG1):c.1406_1407insA (p.Ser470fs)
NM_006019.4(TCIRG1):c.1419dup (p.Ser474fs)
NM_006019.4(TCIRG1):c.1421C>A (p.Ser474Ter)
NM_006019.4(TCIRG1):c.1427G>A (p.Trp476Ter)
NM_006019.4(TCIRG1):c.1438_1439del (p.Ala480fs)
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs) rs2134455711
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
NM_006019.4(TCIRG1):c.1498del (p.Leu500fs) rs2134456106
NM_006019.4(TCIRG1):c.1503del (p.Asn503fs)
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)
NM_006019.4(TCIRG1):c.1560G>A (p.Trp520Ter)
NM_006019.4(TCIRG1):c.1596del (p.Phe533fs)
NM_006019.4(TCIRG1):c.1648_1651dup (p.Val551fs) rs2134459706
NM_006019.4(TCIRG1):c.1664_1667dup (p.His557fs)
NM_006019.4(TCIRG1):c.1674-1G>C
NM_006019.4(TCIRG1):c.1681_1682insT (p.Gly561fs)
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.1736del (p.Gly579fs) rs2134460391
NM_006019.4(TCIRG1):c.1741_1742del (p.Phe581fs)
NM_006019.4(TCIRG1):c.174_175del (p.Cys58_Glu59delinsTer) rs2134432441
NM_006019.4(TCIRG1):c.1759del (p.Phe586_Leu587insTer)
NM_006019.4(TCIRG1):c.1776G>A (p.Trp592Ter) rs1855660497
NM_006019.4(TCIRG1):c.1878C>A (p.Tyr626Ter)
NM_006019.4(TCIRG1):c.1882del (p.Arg628fs) rs1855668626
NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter) rs895239701
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.1967del (p.Leu656fs)
NM_006019.4(TCIRG1):c.1978del (p.Arg660fs) rs2134462969
NM_006019.4(TCIRG1):c.2001del (p.Ala668fs)
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) rs1554995009
NM_006019.4(TCIRG1):c.2104_2105del (p.Glu702fs)
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)
NM_006019.4(TCIRG1):c.2160_2178del (p.Ile721fs) rs2134464569
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2177del (p.Gly726fs)
NM_006019.4(TCIRG1):c.2202C>A (p.Tyr734Ter)
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser) rs587779413
NM_006019.4(TCIRG1):c.2214G>A (p.Trp738Ter)
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs) rs1565164499
NM_006019.4(TCIRG1):c.2233dup (p.Ala745fs) rs2134465013
NM_006019.4(TCIRG1):c.2236+1G>C rs1475338876
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.2255_2273dup (p.Ile758fs)
NM_006019.4(TCIRG1):c.2256G>A (p.Trp752Ter)
NM_006019.4(TCIRG1):c.2271del (p.Arg757_Ile758insTer)
NM_006019.4(TCIRG1):c.2293_2314dup (p.Val772fs)
NM_006019.4(TCIRG1):c.2331dup (p.Ala778fs) rs2134466412
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs) rs1346704603
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.245del (p.Pro82fs)
NM_006019.4(TCIRG1):c.292C>T (p.Gln98Ter) rs1554995115
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.372del (p.Gln124fs)
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter) rs903939170
NM_006019.4(TCIRG1):c.40C>T (p.Gln14Ter)
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)
NM_006019.4(TCIRG1):c.449_452del (p.Glu150fs) rs2134436277
NM_006019.4(TCIRG1):c.474dup (p.Gly159fs) rs780755928
NM_006019.4(TCIRG1):c.480del (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.504-1G>C
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter) rs2134437954
NM_006019.4(TCIRG1):c.524_527dup (p.His177fs) rs2134437974
NM_006019.4(TCIRG1):c.529_544del (p.Pro176_His177insTer)
NM_006019.4(TCIRG1):c.530_537del (p.His177fs) rs1295614525
NM_006019.4(TCIRG1):c.553del (p.Leu185fs) rs1855280375
NM_006019.4(TCIRG1):c.602dup (p.Glu202fs)
NM_006019.4(TCIRG1):c.630+1G>T rs1554995582
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
NM_006019.4(TCIRG1):c.685G>T (p.Gly229Ter) rs746497338
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter) rs1156299579
NM_006019.4(TCIRG1):c.692del (p.Lys231fs)
NM_006019.4(TCIRG1):c.703dup (p.Ile235fs) rs1554995715
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)
NM_006019.4(TCIRG1):c.77dup (p.Ser27fs)
NM_006019.4(TCIRG1):c.797del (p.Glu266fs) rs1431956318
NM_006019.4(TCIRG1):c.807+2T>G rs2134440422
NM_006019.4(TCIRG1):c.824_825del (p.Glu275fs) rs1182235762
NM_006019.4(TCIRG1):c.854_855del (p.Val285fs)
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs) rs1855343916
NM_006019.4(TCIRG1):c.866_869dup (p.Pro291fs)
NM_006019.4(TCIRG1):c.877C>T (p.Gln293Ter)
NM_006019.4(TCIRG1):c.904_952del (p.Val302fs) rs2134441979
NM_006019.4(TCIRG1):c.907dup (p.Tyr303fs) rs1855347940
NM_006019.4(TCIRG1):c.909C>A (p.Tyr303Ter)
NM_006019.4(TCIRG1):c.922del (p.Gln308fs) rs1554996130
NM_006019.4(TCIRG1):c.927C>A (p.Cys309Ter)
NM_006019.4(TCIRG1):c.968G>A (p.Trp323Ter)
NM_006019.4(TCIRG1):c.969G>A (p.Trp323Ter) rs2134442342
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743
NM_006019.4(TCIRG1):c.992_1020del (p.Ala331fs)
NM_006019.4(TCIRG1):c.995dup (p.Gln333fs)

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