ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 396
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HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=) rs2471829 0.97643
NM_006019.4(TCIRG1):c.417+11A>G rs3808974 0.32688
NM_006019.4(TCIRG1):c.1020+152G>T rs72926459 0.18098
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) rs36027301 0.04199
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) rs35089741 0.00806
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_006019.4(TCIRG1):c.*68G>A rs139720520 0.00538
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu) rs142855299 0.00448
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_006019.4(TCIRG1):c.630+14G>A rs201531306 0.00161
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_006019.4(TCIRG1):c.412C>T (p.Pro138Ser) rs35354504 0.00118
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=) rs377108710 0.00099
NM_006019.4(TCIRG1):c.1715C>T (p.Pro572Leu) rs115854062 0.00098
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_006019.4(TCIRG1):c.611C>T (p.Pro204Leu) rs373711940 0.00071
NM_006019.4(TCIRG1):c.1887+131G>A rs78820476 0.00069
NM_006019.4(TCIRG1):c.1487C>T (p.Thr496Met) rs141474168 0.00058
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_006019.4(TCIRG1):c.274C>T (p.Arg92Trp) rs371907380 0.00052
NM_006019.4(TCIRG1):c.*67C>T rs570860062 0.00048
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=) rs200900947 0.00040
NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu) rs118141250 0.00038
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys) rs148619884 0.00035
NM_006019.4(TCIRG1):c.2162T>A (p.Ile721Asn) rs150260808 0.00035
NM_006019.4(TCIRG1):c.1673+13G>A rs372404641 0.00029
NM_006019.4(TCIRG1):c.2046T>C (p.Pro682=) rs373493580 0.00029
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_006019.4(TCIRG1):c.123C>T (p.Asn41=) rs147102889 0.00027
NM_006019.4(TCIRG1):c.1165+12G>A rs199554924 0.00026
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met) rs116001129 0.00026
NM_006019.4(TCIRG1):c.1464-10G>A rs370060039 0.00025
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_006019.4(TCIRG1):c.-53G>A rs554788440 0.00023
NM_006019.4(TCIRG1):c.1709C>T (p.Thr570Met) rs61730880 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_006019.4(TCIRG1):c.1097G>A (p.Arg366His) rs369983011 0.00021
NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln) rs201661352 0.00020
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006019.4(TCIRG1):c.1743C>T (p.Phe581=) rs148391697 0.00019
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_006019.4(TCIRG1):c.2414+7G>A rs200879286 0.00016
NM_006019.4(TCIRG1):c.82C>T (p.Arg28Trp) rs139397145 0.00016
NM_006019.4(TCIRG1):c.148C>T (p.Arg50Cys) rs370319355 0.00015
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met) rs372826788 0.00015
NM_006019.4(TCIRG1):c.942G>A (p.Thr314=) rs764846667 0.00015
NM_006019.4(TCIRG1):c.118-6C>T rs375317575 0.00014
NM_006019.4(TCIRG1):c.1464-5C>T rs372813575 0.00011
NM_006019.4(TCIRG1):c.21C>T (p.Ser7=) rs373244328 0.00011
NM_006019.4(TCIRG1):c.387C>T (p.Ala129=) rs763756780 0.00011
NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=) rs147119709 0.00010
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val) rs144775787 0.00010
NM_006019.4(TCIRG1):c.1042G>A (p.Val348Met) rs146023337 0.00009
NM_006019.4(TCIRG1):c.1898A>G (p.Gln633Arg) rs765175241 0.00009
NM_006019.4(TCIRG1):c.1978C>T (p.Arg660Cys) rs528045019 0.00009
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006019.4(TCIRG1):c.574G>A (p.Gly192Ser) rs371658110 0.00009
NM_006019.4(TCIRG1):c.904G>A (p.Val302Met) rs540235063 0.00009
NM_006019.4(TCIRG1):c.97G>A (p.Gly33Ser) rs775576535 0.00009
NM_006019.4(TCIRG1):c.1305+7G>C rs368136779 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_006019.4(TCIRG1):c.851G>A (p.Arg284Gln) rs146244480 0.00008
NM_006019.4(TCIRG1):c.1010G>A (p.Arg337Gln) rs139263189 0.00007
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006019.4(TCIRG1):c.1382A>G (p.Tyr461Cys) rs771395837 0.00007
NM_006019.4(TCIRG1):c.941C>T (p.Thr314Met) rs367818260 0.00007
NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=) rs144158792 0.00006
NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser) rs369222109 0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006019.4(TCIRG1):c.1629C>T (p.Val543=) rs367732638 0.00006
NM_006019.4(TCIRG1):c.1981C>T (p.Arg661Cys) rs770889100 0.00006
NM_006019.4(TCIRG1):c.2028C>T (p.Ala676=) rs370181947 0.00006
NM_006019.4(TCIRG1):c.2119-4G>A rs554600980 0.00006
NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys) rs771198568 0.00006
NM_006019.4(TCIRG1):c.1437C>T (p.Ala479=) rs201800548 0.00005
NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met) rs779910642 0.00005
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_006019.4(TCIRG1):c.763G>A (p.Gly255Arg) rs376201635 0.00005
NM_006019.4(TCIRG1):c.903C>T (p.Ala301=) rs773632286 0.00005
NM_006019.4(TCIRG1):c.-4-3C>T rs200201422 0.00004
NM_006019.4(TCIRG1):c.1009C>T (p.Arg337Trp) rs766765320 0.00004
NM_006019.4(TCIRG1):c.1146C>A (p.Arg382=) rs753324402 0.00004
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) rs369264588 0.00004
NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile) rs763319140 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006019.4(TCIRG1):c.2119-9G>A rs761413420 0.00004
NM_006019.4(TCIRG1):c.2121C>T (p.Leu707=) rs370572421 0.00004
NM_006019.4(TCIRG1):c.2236+1G>A rs1475338876 0.00004
NM_006019.4(TCIRG1):c.2244C>T (p.Ser748=) rs759227930 0.00004
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met) rs377377656 0.00004
NM_006019.4(TCIRG1):c.726C>T (p.His242=) rs1054033489 0.00004
NM_006019.4(TCIRG1):c.964G>A (p.Ala322Thr) rs202161177 0.00004
NM_006019.4(TCIRG1):c.1052G>A (p.Arg351His) rs758621844 0.00003
NM_006019.4(TCIRG1):c.1144C>T (p.Arg382Cys) rs566684294 0.00003
NM_006019.4(TCIRG1):c.1165+9C>T rs886048597 0.00003
NM_006019.4(TCIRG1):c.1438G>A (p.Ala480Thr) rs537359796 0.00003
NM_006019.4(TCIRG1):c.1554+2T>A rs761918801 0.00003
NM_006019.4(TCIRG1):c.1843C>A (p.Leu615Ile) rs753897523 0.00003
NM_006019.4(TCIRG1):c.2118+10G>A rs775491643 0.00003
NM_006019.4(TCIRG1):c.2181C>T (p.Cys727=) rs201017845 0.00003
NM_006019.4(TCIRG1):c.390C>T (p.Ala130=) rs750132812 0.00003
NM_006019.4(TCIRG1):c.990C>T (p.Pro330=) rs772355396 0.00003
NM_006019.4(TCIRG1):c.1066G>A (p.Asp356Asn) rs372701023 0.00002
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys) rs375809635 0.00002
NM_006019.4(TCIRG1):c.1165+11C>T rs745876497 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1294G>A (p.Ala432Thr) rs772440359 0.00002
NM_006019.4(TCIRG1):c.1488G>A (p.Thr496=) rs368168053 0.00002
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199 0.00002
NM_006019.4(TCIRG1):c.1674-8C>T rs754864356 0.00002
NM_006019.4(TCIRG1):c.1875C>G (p.Leu625=) rs758830999 0.00002
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val) rs377034463 0.00002
NM_006019.4(TCIRG1):c.840G>A (p.Gln280=) rs1436170727 0.00002
NM_006019.4(TCIRG1):c.869C>T (p.Pro290Leu) rs886048596 0.00002
NM_006019.4(TCIRG1):c.*34G>A rs772507621 0.00001
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.1021-1G>T rs1590807544 0.00001
NM_006019.4(TCIRG1):c.1080A>G (p.Thr360=) rs767700786 0.00001
NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His) rs755474518 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.1305+10G>A rs1405179710 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1402G>A (p.Ala468Thr) rs774244420 0.00001
NM_006019.4(TCIRG1):c.1417C>T (p.Pro473Ser) rs750456593 0.00001
NM_006019.4(TCIRG1):c.1508A>G (p.Asn503Ser) rs369803798 0.00001
NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile) rs755559179 0.00001
NM_006019.4(TCIRG1):c.1540T>A (p.Phe514Ile) rs776489478 0.00001
NM_006019.4(TCIRG1):c.1587C>A (p.Phe529Leu) rs376351835 0.00001
NM_006019.4(TCIRG1):c.1663T>C (p.Phe555Leu) rs779779379 0.00001
NM_006019.4(TCIRG1):c.1674G>A (p.Val558=) rs745971874 0.00001
NM_006019.4(TCIRG1):c.1693C>T (p.Arg565Trp) rs890729823 0.00001
NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp) rs563996115 0.00001
NM_006019.4(TCIRG1):c.1718A>G (p.Glu573Gly) rs576389893 0.00001
NM_006019.4(TCIRG1):c.1825C>T (p.His609Tyr) rs751612634 0.00001
NM_006019.4(TCIRG1):c.1845C>T (p.Leu615=) rs755196821 0.00001
NM_006019.4(TCIRG1):c.1887+10G>A rs1241903068 0.00001
NM_006019.4(TCIRG1):c.1894G>A (p.Val632Ile) rs760670339 0.00001
NM_006019.4(TCIRG1):c.196+5G>A rs1470999303 0.00001
NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His) rs763065648 0.00001
NM_006019.4(TCIRG1):c.2014-1G>A rs1197237618 0.00001
NM_006019.4(TCIRG1):c.2049C>T (p.Asp683=) rs780969471 0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter) rs1590817956 0.00001
NM_006019.4(TCIRG1):c.2071T>C (p.Ser691Pro) rs772173081 0.00001
NM_006019.4(TCIRG1):c.2115C>T (p.Ala705=) rs769840926 0.00001
NM_006019.4(TCIRG1):c.2119-13A>T rs886048600 0.00001
NM_006019.4(TCIRG1):c.2122G>A (p.Val708Ile) rs573002924 0.00001
NM_006019.4(TCIRG1):c.2232C>T (p.His744=) rs774906865 0.00001
NM_006019.4(TCIRG1):c.2358T>A (p.Ala786=) rs776554801 0.00001
NM_006019.4(TCIRG1):c.2443G>A (p.Gly815Ser) rs1308533755 0.00001
NM_006019.4(TCIRG1):c.2486A>G (p.Asp829Gly) rs147175413 0.00001
NM_006019.4(TCIRG1):c.249G>A (p.Lys83=) rs367708208 0.00001
NM_006019.4(TCIRG1):c.260C>T (p.Pro87Leu) rs982462013 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.381C>T (p.Leu127=) rs1266423367 0.00001
NM_006019.4(TCIRG1):c.394C>T (p.Leu132=) rs1410683808 0.00001
NM_006019.4(TCIRG1):c.417+10C>T rs1224261645 0.00001
NM_006019.4(TCIRG1):c.426C>T (p.Ala142=) rs1006980323 0.00001
NM_006019.4(TCIRG1):c.504-12C>T rs1263185890 0.00001
NM_006019.4(TCIRG1):c.550C>T (p.Arg184Cys) rs1375468915 0.00001
NM_006019.4(TCIRG1):c.571C>T (p.Arg191Cys) rs867224433 0.00001
NM_006019.4(TCIRG1):c.630G>A (p.Thr210=) rs1293760338 0.00001
NM_006019.4(TCIRG1):c.631-2A>C rs1214876593 0.00001
NM_006019.4(TCIRG1):c.725A>G (p.His242Arg) rs759557477 0.00001
NM_006019.4(TCIRG1):c.745C>A (p.Gln249Lys) rs751988410 0.00001
NM_006019.4(TCIRG1):c.764G>A (p.Gly255Glu) rs1379501520 0.00001
NM_006019.4(TCIRG1):c.776A>T (p.Gln259Leu) rs1229696229 0.00001
NM_006019.4(TCIRG1):c.787C>T (p.Gln263Ter) rs1003722483 0.00001
NM_006019.4(TCIRG1):c.911T>C (p.Leu304Pro) rs1449131788 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr) rs773402451 0.00001
NM_001351059.2(TCIRG1):c.-262_-237del rs2134438856
NM_006019.4(TCIRG1):c.*1_*9del (p.Ter831=) rs1555000463
NM_006019.4(TCIRG1):c.-5+1G>C
NM_006019.4(TCIRG1):c.1006C>G (p.Leu336Val) rs1855355458
NM_006019.4(TCIRG1):c.1006C>T (p.Leu336=) rs1855355458
NM_006019.4(TCIRG1):c.1006_1020+17del
NM_006019.4(TCIRG1):c.1019C>A (p.Ser340Ter)
NM_006019.4(TCIRG1):c.1020+1G>T
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) rs1159666762
NM_006019.4(TCIRG1):c.1036_1039del (p.Ser346fs)
NM_006019.4(TCIRG1):c.1037_1040dup (p.Val348fs)
NM_006019.4(TCIRG1):c.1073C>T (p.Pro358Leu) rs2134445007
NM_006019.4(TCIRG1):c.1077dup (p.Thr360fs)
NM_006019.4(TCIRG1):c.1080_1081del (p.Leu361fs)
NM_006019.4(TCIRG1):c.1083C>G (p.Leu361=) rs532106336
NM_006019.4(TCIRG1):c.1100T>A (p.Phe367Tyr) rs913332283
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) rs776436008
NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) rs1269558164
NM_006019.4(TCIRG1):c.1119C>T (p.Gly373=) rs759279602
NM_006019.4(TCIRG1):c.1122_1124dup (p.Val375dup) rs1554996686
NM_006019.4(TCIRG1):c.1128del (p.Asp376fs)
NM_006019.4(TCIRG1):c.1153G>A (p.Glu385Lys) rs2134445416
NM_006019.4(TCIRG1):c.1158_1159del (p.Asn387fs)
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.117+5G>A rs2134430922
NM_006019.4(TCIRG1):c.1211del (p.Phe404fs)
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.1255dup (p.Ala419fs)
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1306-1G>A rs1554997884
NM_006019.4(TCIRG1):c.1306-2A>T rs1855570841
NM_006019.4(TCIRG1):c.1306-2dup rs1554997880
NM_006019.4(TCIRG1):c.1320_1321del (p.Phe441fs) rs2134455003
NM_006019.4(TCIRG1):c.1323_1324del (p.Phe441fs)
NM_006019.4(TCIRG1):c.1346_1351del (p.Leu449_Gly451delinsArg) rs2134455141
NM_006019.4(TCIRG1):c.1348_1376dup (p.Phe459fs) rs747511049
NM_006019.4(TCIRG1):c.1349T>G (p.Met450Arg) rs1348842114
NM_006019.4(TCIRG1):c.1371del (p.Gly458fs) rs2134455254
NM_006019.4(TCIRG1):c.1378del (p.Ile460fs)
NM_006019.4(TCIRG1):c.1384_1386del (p.Asn462del) rs771271907
NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs) rs1554997997
NM_006019.4(TCIRG1):c.1387G>T (p.Glu463Ter)
NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter) rs137853149
NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=) rs570336313
NM_006019.4(TCIRG1):c.1419del (p.Ser474fs)
NM_006019.4(TCIRG1):c.1421C>T (p.Ser474Leu) rs199914625
NM_006019.4(TCIRG1):c.1432_1449delinsT (p.Val478fs)
NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs) rs1554998061
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs) rs2134455711
NM_006019.4(TCIRG1):c.1460G>A (p.Trp487Ter)
NM_006019.4(TCIRG1):c.1480C>T (p.Gln494Ter)
NM_006019.4(TCIRG1):c.1490del (p.Met497fs)
NM_006019.4(TCIRG1):c.1511T>A (p.Val504Asp) rs1855591352
NM_006019.4(TCIRG1):c.1528G>A (p.Gly510Arg) rs868702370
NM_006019.4(TCIRG1):c.1536C>A (p.Tyr512Ter)
NM_006019.4(TCIRG1):c.1553del (p.Pro518fs)
NM_006019.4(TCIRG1):c.1554+1G>A
NM_006019.4(TCIRG1):c.1554+1G>T rs1439348400
NM_006019.4(TCIRG1):c.1555-12C>T rs886048598
NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter) rs1057517365
NM_006019.4(TCIRG1):c.1567del (p.Ala523fs)
NM_006019.4(TCIRG1):c.1602G>A (p.Lys534=) rs1855645512
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=) rs534950651
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met) rs371505143
NM_006019.4(TCIRG1):c.1664_1667dup (p.His557fs)
NM_006019.4(TCIRG1):c.1673+2T>C
NM_006019.4(TCIRG1):c.1674-1G>C
NM_006019.4(TCIRG1):c.1674-9del rs1855654196
NM_006019.4(TCIRG1):c.1680T>C (p.Phe560=) rs1855655326
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.1699del (p.Leu567fs)
NM_006019.4(TCIRG1):c.16del (p.Arg6fs)
NM_006019.4(TCIRG1):c.170G>T (p.Arg57Leu) rs150648332
NM_006019.4(TCIRG1):c.1722del (p.Thr575fs)
NM_006019.4(TCIRG1):c.172T>C (p.Cys58Arg) rs1855184602
NM_006019.4(TCIRG1):c.1782T>A (p.Cys594Ter)
NM_006019.4(TCIRG1):c.17G>A (p.Arg6Gln) rs768203698
NM_006019.4(TCIRG1):c.1806_1811del (p.Ala603_Pro604del) rs1425479122
NM_006019.4(TCIRG1):c.1812del (p.Ser605fs)
NM_006019.4(TCIRG1):c.1835_1837del (p.Asn612del) rs1554999148
NM_006019.4(TCIRG1):c.1853A>G (p.His618Arg) rs886048599
NM_006019.4(TCIRG1):c.1884del (p.Gln629fs)
NM_006019.4(TCIRG1):c.1885C>T (p.Gln629Ter) rs895239701
NM_006019.4(TCIRG1):c.1887+130C>T rs928213157
NM_006019.4(TCIRG1):c.1887+175A>G rs2075609
NM_006019.4(TCIRG1):c.1887+1G>A
NM_006019.4(TCIRG1):c.1887+1G>C rs1554999205
NM_006019.4(TCIRG1):c.1887+3G>C
NM_006019.4(TCIRG1):c.1888-1G>T rs2134462513
NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs) rs1554999516
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.1903_1920del (p.Thr635_Ala640del) rs1554999539
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.1967del (p.Leu656fs)
NM_006019.4(TCIRG1):c.1973_1975dup (p.Arg658dup) rs757802200
NM_006019.4(TCIRG1):c.1976_1978dup (p.His659dup) rs1554999610
NM_006019.4(TCIRG1):c.1978C>G (p.Arg660Gly) rs528045019
NM_006019.4(TCIRG1):c.1978del (p.Arg660fs) rs2134462969
NM_006019.4(TCIRG1):c.1979G>A (p.Arg660His) rs746874956
NM_006019.4(TCIRG1):c.1979GCC[1] (p.Arg661_Arg662del) rs781509075
NM_006019.4(TCIRG1):c.197C>T (p.Thr66Ile) rs886048593
NM_006019.4(TCIRG1):c.1993AGG[1] (p.Arg666del) rs886332099
NM_006019.4(TCIRG1):c.1996A>C (p.Arg666=) rs767714758
NM_006019.4(TCIRG1):c.2011C>T (p.Gln671Ter)
NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) rs1554995009
NM_006019.4(TCIRG1):c.2088dup (p.Gly697fs)
NM_006019.4(TCIRG1):c.2106A>G (p.Glu702=) rs771368616
NM_006019.4(TCIRG1):c.2119-2A>C
NM_006019.4(TCIRG1):c.2146C>T (p.Gln716Ter)
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2185T>C (p.Ser729Pro) rs1279951928
NM_006019.4(TCIRG1):c.2196del (p.Ser733fs)
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs) rs1565164499
NM_006019.4(TCIRG1):c.2236+1G>C rs1475338876
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) rs748659068
NM_006019.4(TCIRG1):c.2274_2279dup (p.760LG[3]) rs761752296
NM_006019.4(TCIRG1):c.2279TGGGCC[4] (p.760LG[4]) rs199973759
NM_006019.4(TCIRG1):c.2293G>A (p.Glu765Lys) rs1855752104
NM_006019.4(TCIRG1):c.2301C>T (p.Gly767=) rs768701072
NM_006019.4(TCIRG1):c.2321del (p.Val774fs)
NM_006019.4(TCIRG1):c.2324C>G (p.Pro775Arg)
NM_006019.4(TCIRG1):c.2329_2387dup (p.Ala796_Phe797insLeuProProLeuProTer)
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
NM_006019.4(TCIRG1):c.2377G>C (p.Gly793Arg)
NM_006019.4(TCIRG1):c.2383_2384del (p.Ala796fs) rs1346704603
NM_006019.4(TCIRG1):c.2392C>T (p.Leu798=) rs1855760265
NM_006019.4(TCIRG1):c.2408_2410dup (p.Leu803dup) rs2134466694
NM_006019.4(TCIRG1):c.2414+1G>T
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-1G>C rs1590819770
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.2415-2_2418delinsGGGTT
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.243G>T (p.Pro81=) rs756073508
NM_006019.4(TCIRG1):c.2443G>C (p.Gly815Arg)
NM_006019.4(TCIRG1):c.2448G>C (p.Thr816=) rs139049989
NM_006019.4(TCIRG1):c.2450dup (p.Tyr818fs) rs1590819834
NM_006019.4(TCIRG1):c.245del (p.Pro82fs)
NM_006019.4(TCIRG1):c.2475C>A (p.Phe825Leu) rs886048602
NM_006019.4(TCIRG1):c.261G>A (p.Pro87=) rs887998539
NM_006019.4(TCIRG1):c.269C>A (p.Pro90Gln) rs908094911
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.304del (p.Glu102fs)
NM_006019.4(TCIRG1):c.308G>C (p.Arg103Pro) rs775326246
NM_006019.4(TCIRG1):c.361C>T (p.Gln121Ter)
NM_006019.4(TCIRG1):c.376C>T (p.Gln126Ter) rs903939170
NM_006019.4(TCIRG1):c.384C>T (p.His128=) rs3808973
NM_006019.4(TCIRG1):c.390del (p.Val131fs)
NM_006019.4(TCIRG1):c.418-1G>C
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006019.4(TCIRG1):c.429_430del (p.Thr145fs)
NM_006019.4(TCIRG1):c.446C>G (p.Ser149Ter)
NM_006019.4(TCIRG1):c.449_452del (p.Glu150fs) rs2134436277
NM_006019.4(TCIRG1):c.455_457delinsGG (p.Thr152fs)
NM_006019.4(TCIRG1):c.466C>T (p.Gln156Ter) rs1554995330
NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs) rs1554995350
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.487C>T (p.Gln163Ter) rs1385741705
NM_006019.4(TCIRG1):c.503+1G>A rs1554995381
NM_006019.4(TCIRG1):c.503+5G>A
NM_006019.4(TCIRG1):c.504-6C>A rs1028394725
NM_006019.4(TCIRG1):c.507_513del (p.Phe169fs)
NM_006019.4(TCIRG1):c.523G>T (p.Glu175Ter) rs2134437954
NM_006019.4(TCIRG1):c.530_537del (p.His177fs) rs1295614525
NM_006019.4(TCIRG1):c.553del (p.Leu185fs) rs1855280375
NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs) rs1554995522
NM_006019.4(TCIRG1):c.609_620del (p.Gln203_Glu206del) rs1554995554
NM_006019.4(TCIRG1):c.624C>G (p.Pro208=) rs779281265
NM_006019.4(TCIRG1):c.625dup (p.Val209fs)
NM_006019.4(TCIRG1):c.630+1G>T rs1554995582
NM_006019.4(TCIRG1):c.630+2T>C rs1392364437
NM_006019.4(TCIRG1):c.634G>A (p.Glu212Lys)
NM_006019.4(TCIRG1):c.647G>A (p.Trp216Ter)
NM_006019.4(TCIRG1):c.649A>G (p.Met217Val) rs1554995659
NM_006019.4(TCIRG1):c.651G>T (p.Met217Ile) rs1554995662
NM_006019.4(TCIRG1):c.656T>C (p.Phe219Ser) rs748465503
NM_006019.4(TCIRG1):c.674del (p.Gly225fs) rs1590804397
NM_006019.4(TCIRG1):c.688C>T (p.Gln230Ter) rs1156299579
NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs) rs1554995706
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)
NM_006019.4(TCIRG1):c.713+1G>C rs774308815
NM_006019.4(TCIRG1):c.713+1G>T rs774308815
NM_006019.4(TCIRG1):c.723C>A (p.Cys241Ter)
NM_006019.4(TCIRG1):c.745C>T (p.Gln249Ter)
NM_006019.4(TCIRG1):c.746AGG[2] (p.Glu251del) rs1554995833
NM_006019.4(TCIRG1):c.751_752insGTATGGGG (p.Glu251fs)
NM_006019.4(TCIRG1):c.766del (p.Ala256fs)
NM_006019.4(TCIRG1):c.772C>T (p.Gln258Ter)
NM_006019.4(TCIRG1):c.797del (p.Glu266fs) rs1431956318
NM_006019.4(TCIRG1):c.807+18_807+54del rs1192256631
NM_006019.4(TCIRG1):c.807+1G>A
NM_006019.4(TCIRG1):c.807+1G>T rs1458295257
NM_006019.4(TCIRG1):c.807+2T>G rs2134440422
NM_006019.4(TCIRG1):c.807+8_807+31del rs1554995901
NM_006019.4(TCIRG1):c.808-2A>C
NM_006019.4(TCIRG1):c.824_825del (p.Glu275fs) rs1182235762
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs) rs1855343916
NM_006019.4(TCIRG1):c.898A>T (p.Lys300Ter)
NM_006019.4(TCIRG1):c.907dup (p.Tyr303fs) rs1855347940
NM_006019.4(TCIRG1):c.922del (p.Gln308fs) rs1554996130
NM_006019.4(TCIRG1):c.934A>G (p.Ser312Gly) rs1855349604
NM_006019.4(TCIRG1):c.940_956delinsTCGGCACAAG (p.Thr314fs)
NM_006019.4(TCIRG1):c.942_943insGTG (p.Thr314_His315insVal) rs779622577
NM_006019.4(TCIRG1):c.961G>A (p.Glu321Lys)
NM_006019.4(TCIRG1):c.961G>C (p.Glu321Gln) rs372690969
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.979C>A (p.Arg327=) rs749361897
NM_014798.3(PLEKHM1):c.217_239del (p.Gly73fs)

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