List of variants in gene STING1 reported as uncertain significance for autoinflammatory syndrome of childhood

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 144

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_198282.4(STING1):c.784G>A (p.Ala262Thr)	rs140038439	0.00032
NM_198282.4(STING1):c.1076A>G (p.Gln359Arg)	rs141830680	0.00023
NM_198282.4(STING1):c.575G>T (p.Gly192Val)	rs201096097	0.00019
NM_198282.4(STING1):c.758G>A (p.Arg253Gln)	rs148833313	0.00018
NM_198282.4(STING1):c.142G>T (p.Val48Leu)	rs902177158	0.00009
NM_198282.4(STING1):c.929G>A (p.Arg310His)	rs144683867	0.00009
NM_198282.4(STING1):c.757C>T (p.Arg253Trp)	rs199795457	0.00006
NM_198282.4(STING1):c.760-3T>C	rs759930084	0.00006
NM_198282.4(STING1):c.761C>T (p.Ala254Val)	rs774690247	0.00006
NM_198282.4(STING1):c.992G>A (p.Arg331Gln)	rs370524913	0.00006
NM_198282.4(STING1):c.32C>T (p.Pro11Leu)	rs146423746	0.00004
NM_198282.4(STING1):c.548A>G (p.Asn183Ser)	rs201277595	0.00004
NM_198282.4(STING1):c.1000C>T (p.Arg334Trp)	rs1197819878	0.00003
NM_198282.4(STING1):c.503T>C (p.Leu168Pro)	rs532530144	0.00003
NM_198282.4(STING1):c.688G>A (p.Gly230Ser)	rs370230460	0.00003
NM_198282.4(STING1):c.1001G>A (p.Arg334Gln)	rs758939417	0.00002
NM_198282.4(STING1):c.1006G>A (p.Glu336Lys)	rs1268179693	0.00002
NM_198282.4(STING1):c.1049C>T (p.Ala350Val)	rs143322684	0.00002
NM_198282.4(STING1):c.1127C>T (p.Thr376Met)	rs370381358	0.00002
NM_198282.4(STING1):c.134G>A (p.Arg45Gln)	rs762935025	0.00002
NM_198282.4(STING1):c.589C>T (p.Arg197Trp)	rs763892914	0.00002
NM_198282.4(STING1):c.637A>C (p.Ser213Arg)	rs1342489613	0.00002
NM_198282.4(STING1):c.668A>G (p.Asp223Gly)	rs746097569	0.00002
NM_198282.4(STING1):c.1003C>A (p.Gln335Lys)	rs1254726825	0.00001
NM_198282.4(STING1):c.1054C>T (p.Pro352Ser)	rs977753165	0.00001
NM_198282.4(STING1):c.1123C>T (p.Arg375Cys)	rs144606267	0.00001
NM_198282.4(STING1):c.161T>C (p.Leu54Pro)	rs1292788155	0.00001
NM_198282.4(STING1):c.184G>A (p.Gly62Arg)	rs766819764	0.00001
NM_198282.4(STING1):c.211C>A (p.Arg71Ser)	rs768649460	0.00001
NM_198282.4(STING1):c.233G>A (p.Arg78Gln)	rs11554775	0.00001
NM_198282.4(STING1):c.26C>T (p.Ser9Phe)	rs888652949	0.00001
NM_198282.4(STING1):c.2T>C (p.Met1Thr)	rs754838823	0.00001
NM_198282.4(STING1):c.40A>C (p.Arg14=)	rs761439213	0.00001
NM_198282.4(STING1):c.418G>A (p.Ala140Thr)	rs1370637313	0.00001
NM_198282.4(STING1):c.430A>G (p.Ile144Val)	rs755245286	0.00001
NM_198282.4(STING1):c.493A>G (p.Ile165Val)	rs768359336	0.00001
NM_198282.4(STING1):c.49G>A (p.Gly17Arg)	rs759944012	0.00001
NM_198282.4(STING1):c.4C>T (p.Pro2Ser)	rs1223377482	0.00001
NM_198282.4(STING1):c.532C>T (p.Arg178Trp)	rs1240603758	0.00001
NM_198282.4(STING1):c.539G>A (p.Arg180Gln)	rs759123296	0.00001
NM_198282.4(STING1):c.547A>C (p.Asn183His)	rs773990834	0.00001
NM_198282.4(STING1):c.572G>A (p.Arg191Gln)	rs750561744	0.00001
NM_198282.4(STING1):c.590G>A (p.Arg197Gln)	rs760564156	0.00001
NM_198282.4(STING1):c.697G>A (p.Ala233Thr)	rs201670175	0.00001
NM_198282.4(STING1):c.709G>T (p.Asp237Tyr)	rs1291110297	0.00001
NM_198282.4(STING1):c.751G>A (p.Gly251Arg)	rs1409697347	0.00001
NM_198282.4(STING1):c.767C>T (p.Thr256Ile)	rs769794754	0.00001
NM_198282.4(STING1):c.841C>T (p.Arg281Trp)	rs750077345	0.00001
NM_198282.4(STING1):c.946+1G>T	rs375560052	0.00001
NC_000005.10:g.(?_139476241)_(139481724_?)dup
NC_000005.9:g.(?_138855826)_(138861309_?)del
NC_000005.9:g.(?_138855846)_(138858113_?)del
NM_198282.4(STING1):c.1013del (p.Lys338fs)	rs765347385
NM_198282.4(STING1):c.1015G>A (p.Glu339Lys)	rs1751660621
NM_198282.4(STING1):c.1021G>C (p.Val341Leu)	rs1751660369
NM_198282.4(STING1):c.1025C>A (p.Thr342Asn)
NM_198282.4(STING1):c.1025del (p.Thr342fs)	rs1581447916
NM_198282.4(STING1):c.1027G>A (p.Val343Met)
NM_198282.4(STING1):c.1028T>C (p.Val343Ala)
NM_198282.4(STING1):c.102G>C (p.Trp34Cys)
NM_198282.4(STING1):c.1061C>A (p.Thr354Asn)
NM_198282.4(STING1):c.1061C>T (p.Thr354Ile)
NM_198282.4(STING1):c.1084G>A (p.Glu362Lys)
NM_198282.4(STING1):c.1124G>A (p.Arg375His)	rs117897081
NM_198282.4(STING1):c.1127C>G (p.Thr376Arg)	rs370381358
NM_198282.4(STING1):c.1129G>T (p.Asp377Tyr)	rs1368968919
NM_198282.4(STING1):c.125A>C (p.His42Pro)
NM_198282.4(STING1):c.128C>T (p.Thr43Ile)
NM_198282.4(STING1):c.133C>T (p.Arg45Trp)
NM_198282.4(STING1):c.170G>T (p.Gly57Val)
NM_198282.4(STING1):c.211C>T (p.Arg71Cys)
NM_198282.4(STING1):c.212_213delinsAA (p.Arg71Gln)	rs1751847315
NM_198282.4(STING1):c.21T>G (p.His7Gln)
NM_198282.4(STING1):c.220C>T (p.His74Tyr)	rs745727679
NM_198282.4(STING1):c.227+1G>A	rs1751846731
NM_198282.4(STING1):c.227+4A>G	rs2152094440
NM_198282.4(STING1):c.228-3C>T	rs1751840868
NM_198282.4(STING1):c.233G>C (p.Arg78Pro)	rs11554775
NM_198282.4(STING1):c.40del (p.Arg14fs)
NM_198282.4(STING1):c.428A>C (p.Glu143Ala)
NM_198282.4(STING1):c.42G>A (p.Arg14=)
NM_198282.4(STING1):c.44dup (p.His16fs)	rs1581455186
NM_198282.4(STING1):c.479C>T (p.Ala160Val)	rs767904008
NM_198282.4(STING1):c.493A>C (p.Ile165Leu)	rs768359336
NM_198282.4(STING1):c.496G>T (p.Gly166Ter)
NM_198282.4(STING1):c.498A>G (p.Gly166=)
NM_198282.4(STING1):c.505C>T (p.Arg169Trp)
NM_198282.4(STING1):c.520G>A (p.Glu174Lys)
NM_198282.4(STING1):c.524T>C (p.Leu175Pro)
NM_198282.4(STING1):c.529G>A (p.Ala177Thr)	rs2152093638
NM_198282.4(STING1):c.533G>A (p.Arg178Gln)
NM_198282.4(STING1):c.538C>T (p.Arg180Ter)
NM_198282.4(STING1):c.545A>C (p.Tyr182Ser)
NM_198282.4(STING1):c.551A>T (p.Gln184Leu)
NM_198282.4(STING1):c.5C>T (p.Pro2Leu)
NM_198282.4(STING1):c.602T>C (p.Leu201Pro)	rs1581450494
NM_198282.4(STING1):c.61_64del (p.Ala21fs)
NM_198282.4(STING1):c.620G>A (p.Gly207Glu)
NM_198282.4(STING1):c.620G>T (p.Gly207Val)
NM_198282.4(STING1):c.622G>A (p.Val208Met)
NM_198282.4(STING1):c.658C>T (p.Arg220Cys)
NM_198282.4(STING1):c.659G>T (p.Arg220Leu)
NM_198282.4(STING1):c.65C>A (p.Ala22Asp)
NM_198282.4(STING1):c.683A>G (p.Gln228Arg)
NM_198282.4(STING1):c.688G>T (p.Gly230Cys)
NM_198282.4(STING1):c.688_689delinsTC (p.Gly230Ser)	rs1751724669
NM_198282.4(STING1):c.691G>A (p.Asp231Asn)
NM_198282.4(STING1):c.695_696insGTGACCG (p.His232delinsGlnTer)
NM_198282.4(STING1):c.69G>C (p.Leu23Phe)
NM_198282.4(STING1):c.70G>T (p.Val24Phe)
NM_198282.4(STING1):c.710A>G (p.Asp237Gly)	rs1167471683
NM_198282.4(STING1):c.722G>C (p.Ser241Thr)
NM_198282.4(STING1):c.755A>G (p.Gln252Arg)
NM_198282.4(STING1):c.759+3A>G
NM_198282.4(STING1):c.760-2_766delinsTACCT	rs2152093375
NM_198282.4(STING1):c.777G>A (p.Leu259=)
NM_198282.4(STING1):c.785C>G (p.Ala262Gly)	rs2152093371
NM_198282.4(STING1):c.790C>T (p.Pro264Ser)	rs141928874
NM_198282.4(STING1):c.7C>T (p.His3Tyr)	rs1490896074
NM_198282.4(STING1):c.804G>C (p.Leu268Phe)	rs2152093364
NM_198282.4(STING1):c.808G>A (p.Ala270Thr)
NM_198282.4(STING1):c.826C>G (p.Gln276Glu)
NM_198282.4(STING1):c.844G>A (p.Glu282Lys)
NM_198282.4(STING1):c.845A>G (p.Glu282Gly)	rs1483629542
NM_198282.4(STING1):c.847G>A (p.Asp283Asn)
NM_198282.4(STING1):c.851G>A (p.Arg284Lys)
NM_198282.4(STING1):c.856G>A (p.Glu286Lys)
NM_198282.4(STING1):c.862G>A (p.Ala288Thr)
NM_198282.4(STING1):c.908C>A (p.Pro303His)
NM_198282.4(STING1):c.91G>T (p.Val31Leu)
NM_198282.4(STING1):c.92T>C (p.Val31Ala)	rs1321304491
NM_198282.4(STING1):c.931C>T (p.Leu311Phe)
NM_198282.4(STING1):c.932T>C (p.Leu311Pro)
NM_198282.4(STING1):c.946+5G>A
NM_198282.4(STING1):c.946+5G>T
NM_198282.4(STING1):c.946+6G>A
NM_198282.4(STING1):c.946+6G>C
NM_198282.4(STING1):c.947-3C>T
NM_198282.4(STING1):c.952G>C (p.Ala318Pro)
NM_198282.4(STING1):c.952G>T (p.Ala318Ser)	rs1561482019
NM_198282.4(STING1):c.95C>T (p.Thr32Ile)
NM_198282.4(STING1):c.979C>A (p.Gln327Lys)	rs201015563
NM_198282.4(STING1):c.980A>C (p.Gln327Pro)
NM_198282.4(STING1):c.991C>T (p.Arg331Trp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.