ClinVar Miner

List of variants reported as benign for autoimmune enteropathy

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 71
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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_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_007315.4(STAT1):c.634-16C>T rs45479293 0.01475
NM_014009.4(FOXP3):c.648-20G>A rs2232368 0.01436
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_014009.4(FOXP3):c.324G>A (p.Thr108=) rs111856931 0.00245
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_014009.4(FOXP3):c.648-13T>A rs190739204 0.00201
NM_014009.4(FOXP3):c.210+16C>T rs372471440 0.00165
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) rs199917616 0.00151
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_014009.4(FOXP3):c.155G>T (p.Gly52Val) rs17847095 0.00055
NM_007315.4(STAT1):c.634-13C>T rs200380549 0.00050
NM_007315.4(STAT1):c.1116T>C (p.Asn372=) rs55891000 0.00030
NM_014009.4(FOXP3):c.1044+17G>A rs11465478 0.00026
NM_014009.4(FOXP3):c.340C>T (p.Arg114Trp) rs200554980 0.00023
NM_014009.4(FOXP3):c.874G>A (p.Val292Ile) rs74162067 0.00019
NM_014009.4(FOXP3):c.455-6C>T rs373767482 0.00018
NM_007315.4(STAT1):c.1728-4C>T rs760805208 0.00016
NM_014009.4(FOXP3):c.112G>T (p.Ala38Ser) rs782239006 0.00014
NM_014009.4(FOXP3):c.249G>C (p.Gly83=) rs782210800 0.00013
NM_014009.4(FOXP3):c.1278C>A (p.Asn426Lys) rs369332983 0.00011
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu) rs140222626 0.00011
NM_014009.4(FOXP3):c.624C>T (p.Phe208=) rs148215677 0.00010
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile) rs367860281 0.00008
NM_014009.4(FOXP3):c.1221C>T (p.Thr407=) rs373302430 0.00007
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) rs782640594 0.00007
NM_014009.4(FOXP3):c.659C>T (p.Ala220Val) rs2232369 0.00007
NM_014009.4(FOXP3):c.1147-13C>T rs782632308 0.00006
NM_014009.4(FOXP3):c.1241G>A (p.Arg414His) rs782786757 0.00006
NM_014009.4(FOXP3):c.1149C>T (p.Asn383=) rs782267196 0.00005
NM_014009.4(FOXP3):c.873C>T (p.Val291=) rs782371089 0.00005
NM_007315.4(STAT1):c.1713T>G (p.Pro571=) rs772114461 0.00003
NM_014009.4(FOXP3):c.1051C>T (p.Leu351=) rs782127412 0.00003
NM_014009.4(FOXP3):c.495G>A (p.Pro165=) rs781920028 0.00003
NM_014009.4(FOXP3):c.735+14G>A rs782539969 0.00003
NM_014009.4(FOXP3):c.116G>A (p.Arg39Gln) rs782639786 0.00002
NM_014009.4(FOXP3):c.352C>G (p.Leu118Val) rs1373580534 0.00002
NM_014009.4(FOXP3):c.736-14G>A rs76798919 0.00002
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu) rs1382549860 0.00001
NM_014009.4(FOXP3):c.625G>A (p.Glu209Lys) rs143048239 0.00001
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys) rs781881326 0.00001
NM_007315.4(STAT1):c.1038-9dup
NM_007315.4(STAT1):c.1098-5dup rs200288904
NM_007315.4(STAT1):c.1222-9G>T rs551727276
NM_014009.4(FOXP3):c.1045-11C>G rs74162068
NM_014009.4(FOXP3):c.1147-12G>C
NM_014009.4(FOXP3):c.131C>G (p.Thr44Ser)
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del) rs781861708
NM_014009.4(FOXP3):c.316-3del rs782086170
NM_014009.4(FOXP3):c.336C>T (p.His112=) rs143632471
NM_014009.4(FOXP3):c.543-3dup
NM_014009.4(FOXP3):c.59C>T (p.Pro20Leu) rs2066089076
NM_014009.4(FOXP3):c.826G>A (p.Asp276Asn)
NM_014009.4(FOXP3):c.968-13del

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