ClinVar Miner

List of variants studied for Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency

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ClinVar version:
Total variants: 486
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.1874-8C>T rs2066804 0.22007
NM_007315.4(STAT1):c.63T>C (p.Leu21=) rs2066802 0.06562
NM_007315.4(STAT1):c.634-16C>T rs45479293 0.01475
NM_007315.4(STAT1):c.1097+10C>G rs41488044 0.00594
NM_007315.4(STAT1):c.1314A>G (p.Gln438=) rs138091660 0.00495
NM_007315.4(STAT1):c.2136T>G (p.Val712=) rs35364817 0.00465
NM_007315.4(STAT1):c.2019A>G (p.Lys673=) rs35098579 0.00351
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
NM_007315.4(STAT1):c.463-8G>C rs2066794 0.00329
NM_007315.4(STAT1):c.1155G>A (p.Thr385=) rs41270237 0.00280
NM_007315.4(STAT1):c.1347+8T>G rs16833147 0.00274
NM_007315.4(STAT1):c.990G>A (p.Gln330=) rs41509946 0.00272
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_007315.4(STAT1):c.1257G>A (p.Thr419=) rs73979321 0.00224
NM_007315.4(STAT1):c.793A>G (p.Ile265Val) rs148775168 0.00223
NM_007315.4(STAT1):c.1098-17A>G rs182094949 0.00140
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_007315.4(STAT1):c.2238+17G>T rs115758905 0.00132
NM_007315.4(STAT1):c.354C>T (p.Asn118=) rs45463799 0.00106
NM_007315.4(STAT1):c.1872C>T (p.Gly624=) rs2230101 0.00070
NM_007315.4(STAT1):c.1127+9C>T rs201370851 0.00066
NM_007315.4(STAT1):c.274-13C>G rs45565836 0.00065
NM_007315.4(STAT1):c.1263+7G>A rs56228116 0.00056
NM_007315.4(STAT1):c.1727+12C>T rs201733976 0.00053
NM_007315.4(STAT1):c.634-13C>T rs200380549 0.00050
NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) rs148573907 0.00048
NM_007315.4(STAT1):c.1098-11T>A rs369780737 0.00042
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln) rs146273341 0.00042
NM_007315.4(STAT1):c.1116T>C (p.Asn372=) rs55891000 0.00030
NM_007315.4(STAT1):c.1127+10G>A rs140665796 0.00030
NM_007315.4(STAT1):c.825G>A (p.Gln275=) rs61756197 0.00025
NM_007315.4(STAT1):c.1098-19A>G rs112684142 0.00024
NM_007315.4(STAT1):c.1248C>G (p.Gly416=) rs140787216 0.00024
NM_007315.4(STAT1):c.2060-11T>C rs192462536 0.00020
NM_007315.4(STAT1):c.1098-13del rs769691301 0.00019
NM_007315.4(STAT1):c.1728-4C>T rs760805208 0.00016
NM_007315.4(STAT1):c.1363G>A (p.Val455Ile) rs371982540 0.00014
NM_007315.4(STAT1):c.1632+6G>A rs185216067 0.00014
NM_007315.4(STAT1):c.1059G>A (p.Glu353=) rs371279547 0.00011
NM_007315.4(STAT1):c.274-4C>G rs377209172 0.00011
NM_007315.4(STAT1):c.1263+20G>T rs573738354 0.00010
NM_007315.4(STAT1):c.1341C>A (p.Asp447Glu) rs140351189 0.00010
NM_007315.4(STAT1):c.1582+9A>G rs1309616318 0.00009
NM_007315.4(STAT1):c.1222-14T>G rs201698540 0.00008
NM_007315.4(STAT1):c.1127+4C>T rs372508550 0.00007
NM_007315.4(STAT1):c.1866C>T (p.Asn622=) rs112108750 0.00007
NM_007315.4(STAT1):c.186A>G (p.Ser62=) rs146158319 0.00007
NM_007315.4(STAT1):c.1090T>C (p.Phe364Leu) rs759722579 0.00006
NM_007315.4(STAT1):c.1437G>A (p.Ala479=) rs377513599 0.00006
NM_007315.4(STAT1):c.542-3T>C rs377490932 0.00006
NM_007315.4(STAT1):c.1582+7G>A rs762378892 0.00005
NM_007315.4(STAT1):c.1614G>A (p.Pro538=) rs373903728 0.00005
NM_007315.4(STAT1):c.172C>T (p.His58Tyr) rs751586208 0.00005
NM_007315.4(STAT1):c.1222-8T>C rs771679538 0.00004
NM_007315.4(STAT1):c.1569A>G (p.Gly523=) rs1211461298 0.00004
NM_007315.4(STAT1):c.1727+13G>A rs377146580 0.00004
NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln) rs369060692 0.00004
NM_007315.4(STAT1):c.1899C>T (p.Pro633=) rs141415212 0.00004
NM_007315.4(STAT1):c.2190G>A (p.Glu730=) rs748388742 0.00004
NM_007315.4(STAT1):c.429C>G (p.Asp143Glu) rs780853224 0.00004
NM_007315.4(STAT1):c.864C>T (p.Thr288=) rs61756198 0.00004
NM_007315.4(STAT1):c.992G>A (p.Arg331Lys) rs533671897 0.00004
NM_007315.4(STAT1):c.1347+10T>C rs376263835 0.00003
NM_007315.4(STAT1):c.1362C>T (p.Pro454=) rs753907638 0.00003
NM_007315.4(STAT1):c.1431G>A (p.Leu477=) rs1384090178 0.00003
NM_007315.4(STAT1):c.1632+5G>A rs761686482 0.00003
NM_007315.4(STAT1):c.1713T>G (p.Pro571=) rs772114461 0.00003
NM_007315.4(STAT1):c.1839A>G (p.Thr613=) rs779585092 0.00003
NM_007315.4(STAT1):c.201A>G (p.Gln67=) rs148148052 0.00003
NM_007315.4(STAT1):c.2059+5G>A rs757528949 0.00003
NM_007315.4(STAT1):c.2087C>A (p.Pro696His) rs138723664 0.00003
NM_007315.4(STAT1):c.541+6G>C rs775498408 0.00003
NM_007315.4(STAT1):c.785+14A>G rs901076750 0.00003
NM_007315.4(STAT1):c.801G>A (p.Ala267=) rs146141778 0.00003
NM_007315.4(STAT1):c.898G>C (p.Val300Leu) rs143131630 0.00003
NM_007315.4(STAT1):c.1119A>G (p.Thr373=) rs749099290 0.00002
NM_007315.4(STAT1):c.1225T>C (p.Leu409=) rs756634860 0.00002
NM_007315.4(STAT1):c.1349C>T (p.Thr450Met) rs527393923 0.00002
NM_007315.4(STAT1):c.135C>T (p.His45=) rs566696388 0.00002
NM_007315.4(STAT1):c.1599C>T (p.Pro533=) rs747857564 0.00002
NM_007315.4(STAT1):c.1707G>A (p.Leu569=) rs199668489 0.00002
NM_007315.4(STAT1):c.2238+11C>T rs374341577 0.00002
NM_007315.4(STAT1):c.372+13C>T rs911316159 0.00002
NM_007315.4(STAT1):c.634-11A>G rs760467014 0.00002
NM_007315.4(STAT1):c.670A>T (p.Thr224Ser) rs771750276 0.00002
NM_007315.4(STAT1):c.735C>T (p.Ser245=) rs768384746 0.00002
NM_007315.4(STAT1):c.870A>G (p.Glu290=) rs767586956 0.00002
NM_007315.4(STAT1):c.948G>A (p.Ser316=) rs759164014 0.00002
NM_007315.4(STAT1):c.972C>T (p.Cys324=) rs1181331709 0.00002
NM_007315.4(STAT1):c.1011A>G (p.Thr337=) rs763252598 0.00001
NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) rs768767763 0.00001
NM_007315.4(STAT1):c.1038-3C>T rs374148252 0.00001
NM_007315.4(STAT1):c.1060C>T (p.Leu354=) rs1224130066 0.00001
NM_007315.4(STAT1):c.1086C>T (p.Val362=) rs1422113035 0.00001
NM_007315.4(STAT1):c.1097+3A>G rs1225283533 0.00001
NM_007315.4(STAT1):c.1097+6A>G rs1485704994 0.00001
NM_007315.4(STAT1):c.1098-13A>T rs45527832 0.00001
NM_007315.4(STAT1):c.1117A>T (p.Thr373Ser) rs768434440 0.00001
NM_007315.4(STAT1):c.1127+18C>T rs190749206 0.00001
NM_007315.4(STAT1):c.1221+11C>A rs1033197461 0.00001
NM_007315.4(STAT1):c.1222-3T>C rs886055379 0.00001
NM_007315.4(STAT1):c.1233A>G (p.Glu411=) rs201555918 0.00001
NM_007315.4(STAT1):c.1272C>T (p.Leu424=) rs777989690 0.00001
NM_007315.4(STAT1):c.1275C>T (p.Ile425=) rs373080372 0.00001
NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) rs143182587 0.00001
NM_007315.4(STAT1):c.1317G>A (p.Leu439=) rs1027635150 0.00001
NM_007315.4(STAT1):c.1336A>G (p.Ile446Val) rs1313271807 0.00001
NM_007315.4(STAT1):c.1344C>T (p.Leu448=) rs773084786 0.00001
NM_007315.4(STAT1):c.1348-19G>A rs1328692797 0.00001
NM_007315.4(STAT1):c.1348A>G (p.Thr450Ala) rs1364125268 0.00001
NM_007315.4(STAT1):c.1392C>T (p.Leu464=) rs761609728 0.00001
NM_007315.4(STAT1):c.1395G>A (p.Pro465=) rs774119065 0.00001
NM_007315.4(STAT1):c.1398C>T (p.Ser466=) rs763759889 0.00001
NM_007315.4(STAT1):c.1399G>A (p.Gly467Ser) rs762390015 0.00001
NM_007315.4(STAT1):c.1447-8C>G rs769967623 0.00001
NM_007315.4(STAT1):c.1544A>G (p.Asn515Ser) rs190269533 0.00001
NM_007315.4(STAT1):c.1583-6G>T rs764896742 0.00001
NM_007315.4(STAT1):c.1619C>T (p.Thr540Met) rs753414973 0.00001
NM_007315.4(STAT1):c.1633-10A>G rs200571234 0.00001
NM_007315.4(STAT1):c.1727+10A>G rs1429277615 0.00001
NM_007315.4(STAT1):c.1744A>G (p.Ile582Val) rs774306421 0.00001
NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser) rs745491762 0.00001
NM_007315.4(STAT1):c.1874-11C>T rs749737547 0.00001
NM_007315.4(STAT1):c.2003A>T (p.Tyr668Phe) rs771679419 0.00001
NM_007315.4(STAT1):c.2139C>T (p.His713=) rs761039891 0.00001
NM_007315.4(STAT1):c.2196C>T (p.Asp732=) rs778900428 0.00001
NM_007315.4(STAT1):c.2229C>T (p.Phe743=) rs749333159 0.00001
NM_007315.4(STAT1):c.2239-16T>C rs966938422 0.00001
NM_007315.4(STAT1):c.274-3T>C rs777002134 0.00001
NM_007315.4(STAT1):c.318C>T (p.Tyr106=) rs778063346 0.00001
NM_007315.4(STAT1):c.368A>G (p.Asn123Ser) rs778751233 0.00001
NM_007315.4(STAT1):c.372+12del rs1371149318 0.00001
NM_007315.4(STAT1):c.380C>T (p.Ser127Leu) rs768483703 0.00001
NM_007315.4(STAT1):c.420A>G (p.Lys140=) rs755882174 0.00001
NM_007315.4(STAT1):c.426T>C (p.Leu142=) rs183788866 0.00001
NM_007315.4(STAT1):c.463-14A>G rs777203610 0.00001
NM_007315.4(STAT1):c.463-4G>T rs367840028 0.00001
NM_007315.4(STAT1):c.478A>C (p.Ile160Leu) rs371548986 0.00001
NM_007315.4(STAT1):c.541+4A>G rs763122792 0.00001
NM_007315.4(STAT1):c.541+7G>T rs981229725 0.00001
NM_007315.4(STAT1):c.542-7T>C rs538885747 0.00001
NM_007315.4(STAT1):c.554A>G (p.Asn185Ser) rs1051397529 0.00001
NM_007315.4(STAT1):c.579A>G (p.Lys193=) rs370337308 0.00001
NM_007315.4(STAT1):c.743T>C (p.Ile248Thr) rs779371351 0.00001
NM_007315.4(STAT1):c.75T>C (p.Ser25=) rs1306695738 0.00001
NM_007315.4(STAT1):c.861C>T (p.Tyr287=) rs888084670 0.00001
NM_007315.4(STAT1):c.882C>T (p.Ile294=) rs999631915 0.00001
NM_007315.4(STAT1):c.944+4A>G rs774979554 0.00001
NM_007315.4(STAT1):c.987T>G (p.Pro329=) rs1187374790 0.00001
NC_000002.11:g.(?_189839216)_(192012929_?)dup
NC_000002.11:g.(?_191835429)_(192012929_?)del
NC_000002.11:g.(?_191843562)_(191845415_?)del
NC_000002.12:g.(?_190970683)_(190970737_?)dup
NM_007315.4(STAT1):c.1014G>A (p.Gly338=) rs2125048169
NM_007315.4(STAT1):c.1037+18G>A
NM_007315.4(STAT1):c.1037+8G>A
NM_007315.4(STAT1):c.1038-9dup
NM_007315.4(STAT1):c.1038A>C (p.Arg346Ser) rs1693169265
NM_007315.4(STAT1):c.1050A>G (p.Lys350=) rs372304509
NM_007315.4(STAT1):c.1052T>G (p.Leu351Trp) rs1559013693
NM_007315.4(STAT1):c.1053G>C (p.Leu351Phe) rs1064794955
NM_007315.4(STAT1):c.1067A>G (p.Tyr356Cys) rs2125043988
NM_007315.4(STAT1):c.1069A>G (p.Asn357Asp) rs2125043975
NM_007315.4(STAT1):c.1073T>C (p.Leu358Ser) rs2125043967
NM_007315.4(STAT1):c.1078G>T (p.Val360Phe) rs2125043964
NM_007315.4(STAT1):c.1097+17A>G
NM_007315.4(STAT1):c.1097+20A>G
NM_007315.4(STAT1):c.1098-12_1098-11insA
NM_007315.4(STAT1):c.1098-15A>G
NM_007315.4(STAT1):c.1098-18T>C
NM_007315.4(STAT1):c.1098-19AT[2] rs747888324
NM_007315.4(STAT1):c.1098-19dup rs2125035970
NM_007315.4(STAT1):c.1098-5del rs200288904
NM_007315.4(STAT1):c.1098-5dup rs200288904
NM_007315.4(STAT1):c.1106A>G (p.Asn369Ser)
NM_007315.4(STAT1):c.1112_1114del (p.Arg371del)
NM_007315.4(STAT1):c.1124A>G (p.Lys375Arg)
NM_007315.4(STAT1):c.1127+13C>G
NM_007315.4(STAT1):c.1127+13C>T
NM_007315.4(STAT1):c.1127+19G>A rs368077093
NM_007315.4(STAT1):c.1127+19G>T rs368077093
NM_007315.4(STAT1):c.1127+1G>A
NM_007315.4(STAT1):c.1127+3A>G
NM_007315.4(STAT1):c.1128-1G>A
NM_007315.4(STAT1):c.1128-4A>G
NM_007315.4(STAT1):c.1128-8T>C
NM_007315.4(STAT1):c.1128-9A>G
NM_007315.4(STAT1):c.1137G>A (p.Lys379=) rs2125035188
NM_007315.4(STAT1):c.1147T>G (p.Leu383Val)
NM_007315.4(STAT1):c.1151G>T (p.Gly384Val)
NM_007315.4(STAT1):c.1152C>T (p.Gly384=) rs2125035095
NM_007315.4(STAT1):c.1154C>T (p.Thr385Met) rs587777630
NM_007315.4(STAT1):c.1159A>C (p.Thr387Pro)
NM_007315.4(STAT1):c.1159A>G (p.Thr387Ala)
NM_007315.4(STAT1):c.1162A>C (p.Lys388Gln) rs1559011859
NM_007315.4(STAT1):c.1162A>G (p.Lys388Glu)
NM_007315.4(STAT1):c.1166T>G (p.Val389Gly) rs1692876152
NM_007315.4(STAT1):c.1168A>G (p.Met390Val) rs1574648919
NM_007315.4(STAT1):c.1169T>C (p.Met390Thr) rs1553494436
NM_007315.4(STAT1):c.1170G>A (p.Met390Ile)
NM_007315.4(STAT1):c.1198C>G (p.Leu400Val)
NM_007315.4(STAT1):c.1202C>A (p.Ala401Glu) rs1692872913
NM_007315.4(STAT1):c.1203G>A (p.Ala401=)
NM_007315.4(STAT1):c.120G>A (p.Lys40=)
NM_007315.4(STAT1):c.1221+13G>C rs2125034596
NM_007315.4(STAT1):c.1221+18C>T
NM_007315.4(STAT1):c.1221+6G>T rs1692870587
NM_007315.4(STAT1):c.1221+9A>G rs2125034622
NM_007315.4(STAT1):c.1222-13A>G
NM_007315.4(STAT1):c.1222-20G>C rs2125029581
NM_007315.4(STAT1):c.1222-9G>T rs551727276
NM_007315.4(STAT1):c.1224A>G (p.Gln408=)
NM_007315.4(STAT1):c.1231_1232del (p.Glu411fs) rs2125029430
NM_007315.4(STAT1):c.1251C>T (p.Thr417=)
NM_007315.4(STAT1):c.1256C>G (p.Thr419Arg) rs1347113886
NM_007315.4(STAT1):c.1263+11C>T
NM_007315.4(STAT1):c.1263+15_1263+18del rs765648503
NM_007315.4(STAT1):c.1263+4A>G rs1692742284
NM_007315.4(STAT1):c.1264-10C>A
NM_007315.4(STAT1):c.1264-10C>G rs757527885
NM_007315.4(STAT1):c.1264-20_1264-18del
NM_007315.4(STAT1):c.1264-4C>T
NM_007315.4(STAT1):c.1264-5C>A
NM_007315.4(STAT1):c.128+13C>T
NM_007315.4(STAT1):c.128+17A>G rs2125103282
NM_007315.4(STAT1):c.128+20C>T
NM_007315.4(STAT1):c.128+9A>G
NM_007315.4(STAT1):c.1286_1287del (p.Glu429fs)
NM_007315.4(STAT1):c.129-15T>C
NM_007315.4(STAT1):c.129-5C>T
NM_007315.4(STAT1):c.129-5_129-3del rs747088864
NM_007315.4(STAT1):c.1295C>T (p.Ser432Phe)
NM_007315.4(STAT1):c.1297C>G (p.Leu433Val) rs1181214715
NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) rs1692619276
NM_007315.4(STAT1):c.1311C>T (p.Thr437=) rs1204509101
NM_007315.4(STAT1):c.1320C>T (p.Cys440=)
NM_007315.4(STAT1):c.132G>T (p.Glu44Asp)
NM_007315.4(STAT1):c.1333G>A (p.Val445Ile) rs753695026
NM_007315.4(STAT1):c.1347+15G>T rs1424504598
NM_007315.4(STAT1):c.1347+19C>T
NM_007315.4(STAT1):c.1347+3A>G rs1574645914
NM_007315.4(STAT1):c.1350_1351delinsTT (p.Thr451Ser)
NM_007315.4(STAT1):c.1362C>A (p.Pro454=) rs753907638
NM_007315.4(STAT1):c.1363G>T (p.Val455Phe)
NM_007315.4(STAT1):c.1371G>A (p.Val457=) rs144704615
NM_007315.4(STAT1):c.1371G>C (p.Val457=) rs144704615
NM_007315.4(STAT1):c.1378A>G (p.Asn460Asp)
NM_007315.4(STAT1):c.1380C>T (p.Asn460=)
NM_007315.4(STAT1):c.1386C>A (p.Ser462Arg)
NM_007315.4(STAT1):c.1398C>A (p.Ser466Arg) rs763759889
NM_007315.4(STAT1):c.1401T>C (p.Gly467=) rs775003532
NM_007315.4(STAT1):c.1422C>T (p.Tyr474=)
NM_007315.4(STAT1):c.143A>G (p.Asn48Ser)
NM_007315.4(STAT1):c.1446+15T>C rs1692557710
NM_007315.4(STAT1):c.1447-4C>T
NM_007315.4(STAT1):c.1447-6C>T
NM_007315.4(STAT1):c.1469C>T (p.Pro490Leu) rs2125018475
NM_007315.4(STAT1):c.1498G>A (p.Glu500Lys)
NM_007315.4(STAT1):c.1501G>C (p.Val501Leu)
NM_007315.4(STAT1):c.1504C>T (p.Leu502=)
NM_007315.4(STAT1):c.1508G>A (p.Ser503Asn)
NM_007315.4(STAT1):c.1524T>G (p.Ser508=)
NM_007315.4(STAT1):c.1540C>T (p.Leu514Phe) rs2125018329
NM_007315.4(STAT1):c.1582+12T>C rs2125018153
NM_007315.4(STAT1):c.1582+15A>G
NM_007315.4(STAT1):c.1583-16G>A
NM_007315.4(STAT1):c.1583-16G>T rs776782549
NM_007315.4(STAT1):c.1590C>T (p.Asn530=)
NM_007315.4(STAT1):c.1594A>G (p.Ser532Gly) rs2125013089
NM_007315.4(STAT1):c.159C>T (p.Ala53=) rs1694925548
NM_007315.4(STAT1):c.1613C>T (p.Pro538Leu)
NM_007315.4(STAT1):c.1629T>G (p.Cys543Trp) rs1574642464
NM_007315.4(STAT1):c.1632+10G>A
NM_007315.4(STAT1):c.1632+14G>A rs2125012875
NM_007315.4(STAT1):c.1632+15G>T
NM_007315.4(STAT1):c.1632+19T>C
NM_007315.4(STAT1):c.1632+1G>A
NM_007315.4(STAT1):c.1632+6del rs759601214
NM_007315.4(STAT1):c.1633-13dup rs748055688
NM_007315.4(STAT1):c.1643A>G (p.Asn548Ser)
NM_007315.4(STAT1):c.1657C>T (p.Pro553Ser)
NM_007315.4(STAT1):c.1675G>C (p.Glu559Gln) rs1574641583
NM_007315.4(STAT1):c.1684C>T (p.Leu562=)
NM_007315.4(STAT1):c.1687G>C (p.Glu563Gln) rs2125010416
NM_007315.4(STAT1):c.1688A>G (p.Glu563Gly)
NM_007315.4(STAT1):c.1688A>T (p.Glu563Val)
NM_007315.4(STAT1):c.1698A>G (p.Lys566=) rs2125010388
NM_007315.4(STAT1):c.16G>A (p.Glu6Lys)
NM_007315.4(STAT1):c.1727+6G>C
NM_007315.4(STAT1):c.1728-10C>T
NM_007315.4(STAT1):c.1728-15C>T
NM_007315.4(STAT1):c.1728-6A>G
NM_007315.4(STAT1):c.1728-9G>A
NM_007315.4(STAT1):c.1756C>G (p.Arg586Gly)
NM_007315.4(STAT1):c.1757G>A (p.Arg586Gln) rs144788879
NM_007315.4(STAT1):c.1761G>A (p.Glu587=) rs2125007629
NM_007315.4(STAT1):c.1765G>A (p.Ala589Thr) rs745491762
NM_007315.4(STAT1):c.1765G>C (p.Ala589Pro)
NM_007315.4(STAT1):c.1775A>C (p.Lys592Thr)
NM_007315.4(STAT1):c.1787C>T (p.Pro596Leu)
NM_007315.4(STAT1):c.1788G>A (p.Pro596=)
NM_007315.4(STAT1):c.178C>T (p.Leu60Phe) rs2125100882
NM_007315.4(STAT1):c.1791G>C (p.Gly597=)
NM_007315.4(STAT1):c.1794C>T (p.Thr598=)
NM_007315.4(STAT1):c.1797C>T (p.Phe599=)
NM_007315.4(STAT1):c.1798C>T (p.Leu600=)
NM_007315.4(STAT1):c.1822C>T (p.Arg608Trp)
NM_007315.4(STAT1):c.1827A>G (p.Glu609=) rs1013538894
NM_007315.4(STAT1):c.1830G>A (p.Gly610=)
NM_007315.4(STAT1):c.1849G>A (p.Val617Met)
NM_007315.4(STAT1):c.1854G>A (p.Glu618=)
NM_007315.4(STAT1):c.1857G>A (p.Arg619=)
NM_007315.4(STAT1):c.1867G>A (p.Gly623Arg)
NM_007315.4(STAT1):c.1873+7G>A
NM_007315.4(STAT1):c.1874-11C>A
NM_007315.4(STAT1):c.1874-3T>C rs2125000778
NM_007315.4(STAT1):c.1886A>T (p.His629Leu) rs1691957289
NM_007315.4(STAT1):c.188A>G (p.Gln63Arg) rs2125100837
NM_007315.4(STAT1):c.1890G>T (p.Ala630=) rs757407974
NM_007315.4(STAT1):c.1905G>A (p.Thr635=)
NM_007315.4(STAT1):c.1911A>G (p.Lys637=) rs759265816
NM_007315.4(STAT1):c.193G>A (p.Asp65Asn) rs1574672739
NM_007315.4(STAT1):c.1942A>G (p.Ile648Val)
NM_007315.4(STAT1):c.1949A>G (p.Asn650Ser) rs776429557
NM_007315.4(STAT1):c.194A>G (p.Asp65Gly)
NM_007315.4(STAT1):c.1965T>G (p.Ala655=)
NM_007315.4(STAT1):c.1974T>G (p.Asn658Lys)
NM_007315.4(STAT1):c.1976T>C (p.Ile659Thr) rs2125000384
NM_007315.4(STAT1):c.1989_1997dup (p.Leu667_Tyr668insLysTyrLeu)
NM_007315.4(STAT1):c.1992G>C (p.Leu664=) rs1691949058
NM_007315.4(STAT1):c.1999_2000del (p.Leu667fs) rs2125000306
NM_007315.4(STAT1):c.2009A>G (p.Asn670Ser) rs2125000268
NM_007315.4(STAT1):c.200A>C (p.Gln67Pro)
NM_007315.4(STAT1):c.200A>G (p.Gln67Arg)
NM_007315.4(STAT1):c.2011A>G (p.Ile671Val)
NM_007315.4(STAT1):c.2016C>A (p.Asp672Glu)
NM_007315.4(STAT1):c.2034A>C (p.Gly678=)
NM_007315.4(STAT1):c.203A>G (p.Tyr68Cys)
NM_007315.4(STAT1):c.2059+18G>A
NM_007315.4(STAT1):c.2059+18G>T rs2124999919
NM_007315.4(STAT1):c.2059+6_2059+7del rs1691942843
NM_007315.4(STAT1):c.2059+8G>A rs2125000014
NM_007315.4(STAT1):c.2059G>C (p.Ala687Pro)
NM_007315.4(STAT1):c.208C>G (p.Arg70Gly)
NM_007315.4(STAT1):c.208C>T (p.Arg70Cys)
NM_007315.4(STAT1):c.2101T>A (p.Tyr701Asn)
NM_007315.4(STAT1):c.2102A>G (p.Tyr701Cys) rs2124996723
NM_007315.4(STAT1):c.2134G>A (p.Val712Ile)
NM_007315.4(STAT1):c.2135+2T>A rs2124996603
NM_007315.4(STAT1):c.2136-15T>C
NM_007315.4(STAT1):c.2136-4T>G
NM_007315.4(STAT1):c.2160A>G (p.Thr720=)
NM_007315.4(STAT1):c.2166C>T (p.Asn722=)
NM_007315.4(STAT1):c.2172C>A (p.Leu724=) rs140108956
NM_007315.4(STAT1):c.2175C>G (p.Pro725=)
NM_007315.4(STAT1):c.2193T>C (p.Phe731=) rs1261939030
NM_007315.4(STAT1):c.2201_2208del (p.Val734fs) rs1691780324
NM_007315.4(STAT1):c.2202G>T (p.Val734=)
NM_007315.4(STAT1):c.2217C>T (p.Gly739=)
NM_007315.4(STAT1):c.2230G>A (p.Asp744Asn)
NM_007315.4(STAT1):c.2236A>G (p.Met746Val)
NM_007315.4(STAT1):c.2238+12G>A
NM_007315.4(STAT1):c.2238+18C>A
NM_007315.4(STAT1):c.2238+18C>T rs1369745586
NM_007315.4(STAT1):c.2238+19C>T
NM_007315.4(STAT1):c.2238+6T>C
NM_007315.4(STAT1):c.2238+8C>T rs1220211002
NM_007315.4(STAT1):c.2239-16T>G
NM_007315.4(STAT1):c.2239-18C>T
NM_007315.4(STAT1):c.2239-20C>T
NM_007315.4(STAT1):c.2249_*2del (p.Val750fs)
NM_007315.4(STAT1):c.237A>G (p.Leu79=) rs2125100744
NM_007315.4(STAT1):c.246C>A (p.Asn82Lys) rs1694920831
NM_007315.4(STAT1):c.25C>T (p.Gln9Ter)
NM_007315.4(STAT1):c.273+13T>C
NM_007315.4(STAT1):c.274-12A>C
NM_007315.4(STAT1):c.274-6A>G rs2125097234
NM_007315.4(STAT1):c.274-9C>G
NM_007315.4(STAT1):c.295A>G (p.Ile99Val)
NM_007315.4(STAT1):c.355G>A (p.Ala119Thr)
NM_007315.4(STAT1):c.358C>G (p.Gln120Glu) rs1694803399
NM_007315.4(STAT1):c.372+15T>C
NM_007315.4(STAT1):c.372+18A>G
NM_007315.4(STAT1):c.373-10C>G
NM_007315.4(STAT1):c.373-7A>G
NM_007315.4(STAT1):c.373-8dup rs1559021132
NM_007315.4(STAT1):c.375T>C (p.Ala125=)
NM_007315.4(STAT1):c.389T>C (p.Ile130Thr) rs1694239561
NM_007315.4(STAT1):c.38A>G (p.Lys13Arg)
NM_007315.4(STAT1):c.400G>T (p.Val134Leu)
NM_007315.4(STAT1):c.434A>G (p.Lys145Arg) rs2125079464
NM_007315.4(STAT1):c.435A>G (p.Lys145=) rs2125079456
NM_007315.4(STAT1):c.444T>C (p.Asn148=)
NM_007315.4(STAT1):c.456G>A (p.Lys152=)
NM_007315.4(STAT1):c.462+18A>G
NM_007315.4(STAT1):c.462+8T>C
NM_007315.4(STAT1):c.463-11T>G
NM_007315.4(STAT1):c.463-6T>G
NM_007315.4(STAT1):c.463-6_463-3del rs773775483
NM_007315.4(STAT1):c.463-9T>G
NM_007315.4(STAT1):c.463T>C (p.Cys155Arg)
NM_007315.4(STAT1):c.467T>C (p.Ile156Thr)
NM_007315.4(STAT1):c.489_497del (p.Glu164_Leu166del) rs2125075101
NM_007315.4(STAT1):c.496_504del (p.Leu166_Asp168del) rs2125075085
NM_007315.4(STAT1):c.504T>C (p.Asp168=) rs2125075069
NM_007315.4(STAT1):c.506A>T (p.Glu169Val)
NM_007315.4(STAT1):c.511G>A (p.Asp171Asn) rs2125075054
NM_007315.4(STAT1):c.516C>G (p.Phe172Leu)
NM_007315.4(STAT1):c.51G>A (p.Gln17=) rs1574673866
NM_007315.4(STAT1):c.533A>G (p.Gln178Arg) rs2125074995
NM_007315.4(STAT1):c.541+12C>A
NM_007315.4(STAT1):c.595C>T (p.Leu199Phe) rs1693998248
NM_007315.4(STAT1):c.596T>C (p.Leu199Pro) rs1693998068
NM_007315.4(STAT1):c.604A>G (p.Met202Val) rs387906762
NM_007315.4(STAT1):c.623A>G (p.Asn208Ser) rs1693996687
NM_007315.4(STAT1):c.629G>A (p.Arg210Lys) rs1693996119
NM_007315.4(STAT1):c.633+17C>T
NM_007315.4(STAT1):c.633+19G>A
NM_007315.4(STAT1):c.634-20G>A
NM_007315.4(STAT1):c.634-24_634-18del
NM_007315.4(STAT1):c.634G>C (p.Glu212Gln)
NM_007315.4(STAT1):c.661C>T (p.Leu221=)
NM_007315.4(STAT1):c.68A>T (p.Asp23Val) rs1694998227
NM_007315.4(STAT1):c.693G>T (p.Leu231=) rs2125069950
NM_007315.4(STAT1):c.71_74dup (p.Ser25fs) rs1382612689
NM_007315.4(STAT1):c.720G>A (p.Lys240=) rs2125069889
NM_007315.4(STAT1):c.736G>A (p.Ala246Thr)
NM_007315.4(STAT1):c.744T>C (p.Ile248=)
NM_007315.4(STAT1):c.753G>A (p.Pro251=)
NM_007315.4(STAT1):c.758A>G (p.Asn253Ser)
NM_007315.4(STAT1):c.771T>C (p.Asp257=)
NM_007315.4(STAT1):c.773A>T (p.Gln258Leu)
NM_007315.4(STAT1):c.786-12G>A rs562518878
NM_007315.4(STAT1):c.786-12G>C rs562518878
NM_007315.4(STAT1):c.786-13T>G rs747597448
NM_007315.4(STAT1):c.786-20T>C
NM_007315.4(STAT1):c.786G>T (p.Trp262Cys)
NM_007315.4(STAT1):c.792T>C (p.Thr264=)
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.801G>C (p.Ala267=) rs146141778
NM_007315.4(STAT1):c.802G>T (p.Glu268Ter) rs2125062900
NM_007315.4(STAT1):c.804G>A (p.Glu268=)
NM_007315.4(STAT1):c.810G>T (p.Leu270=)
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007315.4(STAT1):c.837G>A (p.Lys279=)
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) rs1574657750
NM_007315.4(STAT1):c.851A>G (p.Glu284Gly) rs1693752801
NM_007315.4(STAT1):c.855G>A (p.Gln285=)
NM_007315.4(STAT1):c.856A>C (p.Lys286Gln) rs1693752377
NM_007315.4(STAT1):c.856A>G (p.Lys286Glu) rs1693752377
NM_007315.4(STAT1):c.861C>G (p.Tyr287Ter)
NM_007315.4(STAT1):c.862A>G (p.Thr288Ala) rs387906765
NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) rs1693751220
NM_007315.4(STAT1):c.864C>G (p.Thr288=)
NM_007315.4(STAT1):c.865T>C (p.Tyr289His)
NM_007315.4(STAT1):c.866A>G (p.Tyr289Cys) rs1553496850
NM_007315.4(STAT1):c.867C>T (p.Tyr289=)
NM_007315.4(STAT1):c.868G>A (p.Glu290Lys)
NM_007315.4(STAT1):c.871C>T (p.His291Tyr) rs2125062260
NM_007315.4(STAT1):c.876C>A (p.Asp292Glu) rs1085307649
NM_007315.4(STAT1):c.877C>A (p.Pro293Thr)
NM_007315.4(STAT1):c.877C>G (p.Pro293Ala) rs2125062189
NM_007315.4(STAT1):c.877_891del (p.Pro293_Asn297del) rs1693749076
NM_007315.4(STAT1):c.878C>T (p.Pro293Leu)
NM_007315.4(STAT1):c.88A>G (p.Ile30Val)
NM_007315.4(STAT1):c.913A>T (p.Thr305Ser)
NM_007315.4(STAT1):c.934C>T (p.Leu312Phe) rs1574657656
NM_007315.4(STAT1):c.937A>G (p.Ile313Val)
NM_007315.4(STAT1):c.944+11G>T
NM_007315.4(STAT1):c.944+7C>T rs1179398077
NM_007315.4(STAT1):c.944+9A>G
NM_007315.4(STAT1):c.945-10G>A
NM_007315.4(STAT1):c.945-11G>T rs752496029
NM_007315.4(STAT1):c.945-15G>C
NM_007315.4(STAT1):c.945-17T>C rs2125048450
NM_007315.4(STAT1):c.945-5T>G rs1574653475
NM_007315.4(STAT1):c.955G>A (p.Val319Met) rs1693315914
NM_007315.4(STAT1):c.961A>G (p.Arg321Gly)
NM_007315.4(STAT1):c.969C>T (p.Pro323=)
NM_007315.4(STAT1):c.970T>C (p.Cys324Arg) rs1574653439
NM_007315.4(STAT1):c.974T>A (p.Met325Lys)
NM_007315.4(STAT1):c.976C>T (p.Pro326Ser) rs1693314120
NM_007315.4(STAT1):c.989A>G (p.Gln330Arg) rs1693312947
NM_007315.4(STAT1):c.996G>A (p.Pro332=)

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