ClinVar Miner

List of variants reported as likely benign for Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
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.1098-11T>A rs369780737 0.00042
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.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.1582+9A>G rs1309616318 0.00009
NM_007315.4(STAT1):c.1222-14T>G rs201698540 0.00008
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.1437G>A (p.Ala479=) rs377513599 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.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.1899C>T (p.Pro633=) rs141415212 0.00004
NM_007315.4(STAT1):c.2190G>A (p.Glu730=) rs748388742 0.00004
NM_007315.4(STAT1):c.864C>T (p.Thr288=) rs61756198 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.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.785+14A>G rs901076750 0.00003
NM_007315.4(STAT1):c.801G>A (p.Ala267=) rs146141778 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.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.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.1011A>G (p.Thr337=) rs763252598 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.1098-13A>T rs45527832 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.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.1317G>A (p.Leu439=) rs1027635150 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.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.1447-8C>G rs769967623 0.00001
NM_007315.4(STAT1):c.1583-6G>T rs764896742 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.1874-11C>T rs749737547 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.318C>T (p.Tyr106=) rs778063346 0.00001
NM_007315.4(STAT1):c.372+12del rs1371149318 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.541+7G>T rs981229725 0.00001
NM_007315.4(STAT1):c.542-7T>C rs538885747 0.00001
NM_007315.4(STAT1):c.579A>G (p.Lys193=) rs370337308 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.987T>G (p.Pro329=) rs1187374790 0.00001
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.1050A>G (p.Lys350=) rs372304509
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.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.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.1152C>T (p.Gly384=) rs2125035095
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.1222-13A>G
NM_007315.4(STAT1):c.1222-20G>C rs2125029581
NM_007315.4(STAT1):c.1263+11C>T
NM_007315.4(STAT1):c.1263+15_1263+18del rs765648503
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.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.1311C>T (p.Thr437=) rs1204509101
NM_007315.4(STAT1):c.1320C>T (p.Cys440=)
NM_007315.4(STAT1):c.1347+15G>T rs1424504598
NM_007315.4(STAT1):c.1347+19C>T
NM_007315.4(STAT1):c.1362C>A (p.Pro454=) rs753907638
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.1401T>C (p.Gly467=) rs775003532
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.1504C>T (p.Leu502=)
NM_007315.4(STAT1):c.1524T>G (p.Ser508=)
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.159C>T (p.Ala53=) rs1694925548
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.1633-13dup rs748055688
NM_007315.4(STAT1):c.1684C>T (p.Leu562=)
NM_007315.4(STAT1):c.1698A>G (p.Lys566=) rs2125010388
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.1761G>A (p.Glu587=) rs2125007629
NM_007315.4(STAT1):c.1788G>A (p.Pro596=)
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.1827A>G (p.Glu609=) rs1013538894
NM_007315.4(STAT1):c.1830G>A (p.Gly610=)
NM_007315.4(STAT1):c.1854G>A (p.Glu618=)
NM_007315.4(STAT1):c.1857G>A (p.Arg619=)
NM_007315.4(STAT1):c.1873+7G>A
NM_007315.4(STAT1):c.1874-11C>A
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.1965T>G (p.Ala655=)
NM_007315.4(STAT1):c.1992G>C (p.Leu664=) rs1691949058
NM_007315.4(STAT1):c.2034A>C (p.Gly678=)
NM_007315.4(STAT1):c.2059+18G>A
NM_007315.4(STAT1):c.2059+18G>T rs2124999919
NM_007315.4(STAT1):c.2059+8G>A rs2125000014
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.2202G>T (p.Val734=)
NM_007315.4(STAT1):c.2217C>T (p.Gly739=)
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+8C>T rs1220211002
NM_007315.4(STAT1):c.2239-18C>T
NM_007315.4(STAT1):c.2239-20C>T
NM_007315.4(STAT1):c.237A>G (p.Leu79=) rs2125100744
NM_007315.4(STAT1):c.273+13T>C
NM_007315.4(STAT1):c.274-12A>C
NM_007315.4(STAT1):c.274-9C>G
NM_007315.4(STAT1):c.372+15T>C
NM_007315.4(STAT1):c.372+18A>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.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.463-6_463-3del rs773775483
NM_007315.4(STAT1):c.463-9T>G
NM_007315.4(STAT1):c.504T>C (p.Asp168=) rs2125075069
NM_007315.4(STAT1):c.51G>A (p.Gln17=) rs1574673866
NM_007315.4(STAT1):c.541+12C>A
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.661C>T (p.Leu221=)
NM_007315.4(STAT1):c.693G>T (p.Leu231=) rs2125069950
NM_007315.4(STAT1):c.720G>A (p.Lys240=) rs2125069889
NM_007315.4(STAT1):c.744T>C (p.Ile248=)
NM_007315.4(STAT1):c.753G>A (p.Pro251=)
NM_007315.4(STAT1):c.771T>C (p.Asp257=)
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.792T>C (p.Thr264=)
NM_007315.4(STAT1):c.801G>C (p.Ala267=) rs146141778
NM_007315.4(STAT1):c.804G>A (p.Glu268=)
NM_007315.4(STAT1):c.810G>T (p.Leu270=)
NM_007315.4(STAT1):c.837G>A (p.Lys279=)
NM_007315.4(STAT1):c.855G>A (p.Gln285=)
NM_007315.4(STAT1):c.864C>G (p.Thr288=)
NM_007315.4(STAT1):c.867C>T (p.Tyr289=)
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.969C>T (p.Pro323=)
NM_007315.4(STAT1):c.996G>A (p.Pro332=)

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