ClinVar Miner

List of variants reported as uncertain significance for autoimmune enteropathy by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 288
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HGVS dbSNP gnomAD frequency
NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) rs148573907 0.00048
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln) rs146273341 0.00042
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.1341C>A (p.Asp447Glu) rs140351189 0.00010
NM_007315.4(STAT1):c.1127+4C>T rs372508550 0.00007
NM_007315.4(STAT1):c.1090T>C (p.Phe364Leu) rs759722579 0.00006
NM_007315.4(STAT1):c.380C>T (p.Ser127Leu) rs768483703 0.00006
NM_007315.4(STAT1):c.542-3T>C rs377490932 0.00006
NM_007315.4(STAT1):c.172C>T (p.His58Tyr) rs751586208 0.00005
NM_014009.4(FOXP3):c.816+6C>T rs781919619 0.00005
NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln) rs369060692 0.00004
NM_007315.4(STAT1):c.429C>G (p.Asp143Glu) rs780853224 0.00004
NM_007315.4(STAT1):c.992G>A (p.Arg331Lys) rs533671897 0.00004
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln) rs1170772176 0.00004
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp) rs376715533 0.00004
NM_014009.4(FOXP3):c.926G>A (p.Arg309Gln) rs782731811 0.00004
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.1744A>G (p.Ile582Val) rs774306421 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.898G>C (p.Val300Leu) rs143131630 0.00003
NM_014009.4(FOXP3):c.1106G>A (p.Arg369His) rs782443295 0.00003
NM_014009.4(FOXP3):c.773C>T (p.Ala258Val) rs369698589 0.00003
NM_007315.4(STAT1):c.1349C>T (p.Thr450Met) rs527393923 0.00002
NM_007315.4(STAT1):c.670A>T (p.Thr224Ser) rs771750276 0.00002
NM_007315.4(STAT1):c.972C>T (p.Cys324=) rs1181331709 0.00002
NM_014009.4(FOXP3):c.140G>T (p.Gly47Val) rs1432262933 0.00002
NM_014009.4(FOXP3):c.157G>A (p.Gly53Arg) rs587780340 0.00002
NM_014009.4(FOXP3):c.254G>A (p.Arg85Gln) rs782628979 0.00002
NM_014009.4(FOXP3):c.437G>A (p.Arg146Gln) rs1557116525 0.00002
NM_014009.4(FOXP3):c.439C>G (p.Pro147Ala) rs781856708 0.00002
NM_014009.4(FOXP3):c.505T>C (p.Cys169Arg) rs1237648287 0.00002
NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser) rs1557116742 0.00002
NM_014009.4(FOXP3):c.824C>T (p.Ser275Phe) rs1395972442 0.00002
NM_014009.4(FOXP3):c.836C>T (p.Ser279Phe) rs781902347 0.00002
NM_014009.4(FOXP3):c.977A>G (p.His326Arg) rs782429831 0.00002
NM_007315.4(STAT1):c.1038-3C>T rs374148252 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.1117A>T (p.Thr373Ser) rs768434440 0.00001
NM_007315.4(STAT1):c.1222-3T>C rs886055379 0.00001
NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) rs143182587 0.00001
NM_007315.4(STAT1):c.1336A>G (p.Ile446Val) rs1313271807 0.00001
NM_007315.4(STAT1):c.1348A>G (p.Thr450Ala) rs1364125268 0.00001
NM_007315.4(STAT1):c.1399G>A (p.Gly467Ser) rs762390015 0.00001
NM_007315.4(STAT1):c.1544A>G (p.Asn515Ser) rs190269533 0.00001
NM_007315.4(STAT1):c.1619C>T (p.Thr540Met) rs753414973 0.00001
NM_007315.4(STAT1):c.1765G>T (p.Ala589Ser) rs745491762 0.00001
NM_007315.4(STAT1):c.2003A>T (p.Tyr668Phe) rs771679419 0.00001
NM_007315.4(STAT1):c.274-3T>C rs777002134 0.00001
NM_007315.4(STAT1):c.368A>G (p.Asn123Ser) rs778751233 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.554A>G (p.Asn185Ser) rs1051397529 0.00001
NM_007315.4(STAT1):c.743T>C (p.Ile248Thr) rs779371351 0.00001
NM_007315.4(STAT1):c.944+4A>G rs774979554 0.00001
NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln) rs1428528910 0.00001
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala) rs782474624 0.00001
NM_014009.4(FOXP3):c.247G>A (p.Gly83Arg) rs868911396 0.00001
NM_014009.4(FOXP3):c.508A>G (p.Thr170Ala) rs782694663 0.00001
NM_014009.4(FOXP3):c.597C>T (p.Cys199=) rs782377881 0.00001
NC_000002.11:g.(?_189839216)_(192012929_?)dup
NC_000002.11:g.(?_191843562)_(191845415_?)del
NC_000002.12:g.(?_190970683)_(190970737_?)dup
NC_000023.10:g.(?_48932462)_(49840657_?)dup
NM_007315.4(STAT1):c.1038A>C (p.Arg346Ser) rs1693169265
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.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+3A>G
NM_007315.4(STAT1):c.1147T>G (p.Leu383Val)
NM_007315.4(STAT1):c.1151G>T (p.Gly384Val)
NM_007315.4(STAT1):c.1159A>C (p.Thr387Pro)
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.1202C>A (p.Ala401Glu) rs1692872913
NM_007315.4(STAT1):c.1221+6G>T rs1692870587
NM_007315.4(STAT1):c.1221+9A>G rs2125034622
NM_007315.4(STAT1):c.1224A>G (p.Gln408=)
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+4A>G rs1692742284
NM_007315.4(STAT1):c.1295C>T (p.Ser432Phe)
NM_007315.4(STAT1):c.1297C>G (p.Leu433Val) rs1181214715
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+3A>G rs1574645914
NM_007315.4(STAT1):c.1350_1351delinsTT (p.Thr451Ser)
NM_007315.4(STAT1):c.1363G>T (p.Val455Phe)
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.1422C>T (p.Tyr474=)
NM_007315.4(STAT1):c.143A>G (p.Asn48Ser)
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.1508G>A (p.Ser503Asn)
NM_007315.4(STAT1):c.1540C>T (p.Leu514Phe) rs2125018329
NM_007315.4(STAT1):c.1594A>G (p.Ser532Gly) rs2125013089
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+6del rs759601214
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.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.16G>A (p.Glu6Lys)
NM_007315.4(STAT1):c.1727+6G>C
NM_007315.4(STAT1):c.1756C>G (p.Arg586Gly)
NM_007315.4(STAT1):c.1757G>A (p.Arg586Gln) rs144788879
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.178C>T (p.Leu60Phe) rs2125100882
NM_007315.4(STAT1):c.1822C>T (p.Arg608Trp)
NM_007315.4(STAT1):c.1849G>A (p.Val617Met)
NM_007315.4(STAT1):c.1867G>A (p.Gly623Arg)
NM_007315.4(STAT1):c.1874-3T>C rs2125000778
NM_007315.4(STAT1):c.1886A>T (p.His629Leu) rs1691957289
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.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.2009A>G (p.Asn670Ser) rs2125000268
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.203A>G (p.Tyr68Cys)
NM_007315.4(STAT1):c.2059+6_2059+7del rs1691942843
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.2134G>A (p.Val712Ile)
NM_007315.4(STAT1):c.2201_2208del (p.Val734fs) rs1691780324
NM_007315.4(STAT1):c.2230G>A (p.Asp744Asn)
NM_007315.4(STAT1):c.2236A>G (p.Met746Val)
NM_007315.4(STAT1):c.2238+6T>C
NM_007315.4(STAT1):c.2239-16T>G
NM_007315.4(STAT1):c.2249_*2del (p.Val750fs)
NM_007315.4(STAT1):c.246C>A (p.Asn82Lys) rs1694920831
NM_007315.4(STAT1):c.274-6A>G rs2125097234
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.373-10C>G
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.463-6T>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.506A>T (p.Glu169Val)
NM_007315.4(STAT1):c.533A>G (p.Gln178Arg) rs2125074995
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.623A>G (p.Asn208Ser) rs1693996687
NM_007315.4(STAT1):c.629G>A (p.Arg210Lys) rs1693996119
NM_007315.4(STAT1):c.634G>C (p.Glu212Gln)
NM_007315.4(STAT1):c.68A>T (p.Asp23Val) rs1694998227
NM_007315.4(STAT1):c.736G>A (p.Ala246Thr)
NM_007315.4(STAT1):c.758A>G (p.Asn253Ser)
NM_007315.4(STAT1):c.773A>T (p.Gln258Leu)
NM_007315.4(STAT1):c.786G>T (p.Trp262Cys)
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) rs1574657750
NM_007315.4(STAT1):c.856A>G (p.Lys286Glu) rs1693752377
NM_007315.4(STAT1):c.868G>A (p.Glu290Lys)
NM_007315.4(STAT1):c.871C>T (p.His291Tyr) rs2125062260
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.945-5T>G rs1574653475
NM_007315.4(STAT1):c.955G>A (p.Val319Met) rs1693315914
NM_007315.4(STAT1):c.976C>T (p.Pro326Ser) rs1693314120
NM_007315.4(STAT1):c.989A>G (p.Gln330Arg) rs1693312947
NM_014009.4(FOXP3):c.*878A>G rs2066021673
NM_014009.4(FOXP3):c.-23+3G>A
NM_014009.4(FOXP3):c.-23+4A>G rs1216773491
NM_014009.4(FOXP3):c.1020C>G (p.Phe340Leu)
NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr) rs782649847
NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys) rs782539207
NM_014009.4(FOXP3):c.1031C>T (p.Thr344Met)
NM_014009.4(FOXP3):c.1036A>G (p.Ile346Val) rs1557115789
NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys) rs2066044558
NM_014009.4(FOXP3):c.1091A>G (p.Tyr364Cys)
NM_014009.4(FOXP3):c.1129C>G (p.His377Asp) rs1557115591
NM_014009.4(FOXP3):c.1147-12G>A rs370285865
NM_014009.4(FOXP3):c.1247A>T (p.Lys416Ile) rs1569529568
NM_014009.4(FOXP3):c.1249C>T (p.Arg417Trp)
NM_014009.4(FOXP3):c.1250G>A (p.Arg417Gln)
NM_014009.4(FOXP3):c.1252A>G (p.Ser418Gly)
NM_014009.4(FOXP3):c.1253G>A (p.Ser418Asn) rs1317916668
NM_014009.4(FOXP3):c.1253G>C (p.Ser418Thr)
NM_014009.4(FOXP3):c.1257G>C (p.Gln419His) rs2066029760
NM_014009.4(FOXP3):c.1280C>G (p.Pro427Arg) rs2066029479
NM_014009.4(FOXP3):c.14G>T (p.Arg5Met) rs2147949758
NM_014009.4(FOXP3):c.166G>A (p.Ala56Thr)
NM_014009.4(FOXP3):c.188C>T (p.Pro63Leu)
NM_014009.4(FOXP3):c.210+5G>A
NM_014009.4(FOXP3):c.211C>G (p.Leu71Val)
NM_014009.4(FOXP3):c.223C>T (p.Pro75Ser)
NM_014009.4(FOXP3):c.229G>C (p.Val77Leu)
NM_014009.4(FOXP3):c.241C>T (p.Pro81Ser)
NM_014009.4(FOXP3):c.248G>A (p.Gly83Glu)
NM_014009.4(FOXP3):c.292G>A (p.Asp98Asn) rs2147949106
NM_014009.4(FOXP3):c.337G>A (p.Ala113Thr) rs1398753395
NM_014009.4(FOXP3):c.337G>T (p.Ala113Ser) rs1398753395
NM_014009.4(FOXP3):c.341G>A (p.Arg114Gln)
NM_014009.4(FOXP3):c.374G>A (p.Ser125Asn)
NM_014009.4(FOXP3):c.407C>T (p.Thr136Ile)
NM_014009.4(FOXP3):c.409G>A (p.Ala137Thr) rs1057524899
NM_014009.4(FOXP3):c.418G>C (p.Val140Leu)
NM_014009.4(FOXP3):c.451C>T (p.Pro151Ser) rs1557116520
NM_014009.4(FOXP3):c.473T>A (p.Leu158Gln)
NM_014009.4(FOXP3):c.482T>C (p.Val161Ala)
NM_014009.4(FOXP3):c.492G>C (p.Glu164Asp) rs2147948631
NM_014009.4(FOXP3):c.494C>T (p.Pro165Leu) rs1279942582
NM_014009.4(FOXP3):c.499C>A (p.Leu167Met)
NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr) rs1284218417
NM_014009.4(FOXP3):c.521C>G (p.Pro174Arg)
NM_014009.4(FOXP3):c.524G>A (p.Ser175Asn)
NM_014009.4(FOXP3):c.542+6T>C
NM_014009.4(FOXP3):c.542G>T (p.Ser181Ile) rs1602686006
NM_014009.4(FOXP3):c.607G>A (p.Gly203Arg)
NM_014009.4(FOXP3):c.616_618del (p.Lys206del) rs2066076242
NM_014009.4(FOXP3):c.619G>A (p.Val207Ile)
NM_014009.4(FOXP3):c.61G>C (p.Gly21Arg)
NM_014009.4(FOXP3):c.631C>T (p.Pro211Ser) rs374109896
NM_014009.4(FOXP3):c.637G>T (p.Asp213Tyr) rs2147948474
NM_014009.4(FOXP3):c.648-3T>C
NM_014009.4(FOXP3):c.650A>G (p.His217Arg) rs1045776635
NM_014009.4(FOXP3):c.659C>A (p.Ala220Glu)
NM_014009.4(FOXP3):c.680A>C (p.Lys227Thr) rs2147947523
NM_014009.4(FOXP3):c.727G>A (p.Glu243Lys)
NM_014009.4(FOXP3):c.733C>G (p.Gln245Glu) rs2147947487
NM_014009.4(FOXP3):c.736_737inv (p.Leu246Arg)
NM_014009.4(FOXP3):c.754A>G (p.Lys252Glu) rs2147947305
NM_014009.4(FOXP3):c.761G>A (p.Ser254Asn)
NM_014009.4(FOXP3):c.799A>C (p.Thr267Pro)
NM_014009.4(FOXP3):c.80G>A (p.Arg27Lys) rs2147949688
NM_014009.4(FOXP3):c.811T>C (p.Ser271Pro)
NM_014009.4(FOXP3):c.816G>A (p.Val272=)
NM_014009.4(FOXP3):c.847G>T (p.Val283Leu)
NM_014009.4(FOXP3):c.851C>T (p.Ala284Val)
NM_014009.4(FOXP3):c.869C>T (p.Pro290Leu)
NM_014009.4(FOXP3):c.883T>C (p.Trp295Arg)
NM_014009.4(FOXP3):c.890G>C (p.Gly297Ala) rs2066051349
NM_014009.4(FOXP3):c.898G>A (p.Glu300Lys) rs2147946014
NM_014009.4(FOXP3):c.928A>G (p.Arg310Gly) rs782635427
NM_014009.4(FOXP3):c.938G>T (p.Trp313Leu)
NM_014009.4(FOXP3):c.940G>A (p.Gly314Ser)
NM_014009.4(FOXP3):c.941G>A (p.Gly314Asp)
NM_014009.4(FOXP3):c.94G>T (p.Ala32Ser)
NM_014009.4(FOXP3):c.95C>T (p.Ala32Val)
NM_014009.4(FOXP3):c.963C>G (p.Phe321Leu) rs143869281
NM_014009.4(FOXP3):c.967+3A>T rs2066050512
NM_014009.4(FOXP3):c.967G>A (p.Glu323Lys) rs2066050534
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_014009.4(FOXP3):c.970T>G (p.Phe324Val) rs122467173
NM_014009.4(FOXP3):c.992T>C (p.Phe331Ser)
NM_014009.4(FOXP3):c.998T>A (p.Phe333Tyr) rs2147945481
NM_014009.4(FOXP3):c.9C>G (p.Asn3Lys)

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