List of variants in gene STING1 studied for STING-associated vasculopathy with onset in infancy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 241

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HGVS	dbSNP	gnomAD frequency
NM_198282.4(STING1):c.695A>G (p.His232Arg)	rs1131769	0.87015
NM_198282.4(STING1):c.144G>C (p.Val48=)	rs7447927	0.52424
NM_198282.4(STING1):c.878G>A (p.Arg293Gln)	rs7380824	0.20123
NM_198282.4(STING1):c.689G>C (p.Gly230Ala)	rs78233829	0.19311
NM_198282.4(STING1):c.212G>A (p.Arg71His)	rs11554776	0.12831
NM_198282.4(STING1):c.937G>A (p.Ala313Thr)	rs140837017	0.00779
NM_198282.4(STING1):c.659G>A (p.Arg220His)	rs144010323	0.00418
NM_198282.4(STING1):c.580G>T (p.Val194Leu)	rs114834699	0.00363
NM_198282.4(STING1):c.762G>A (p.Ala254=)	rs11554777	0.00153
NM_198282.4(STING1):c.947-18C>G	rs374086484	0.00095
NM_198282.4(STING1):c.33G>A (p.Pro11=)	rs149842998	0.00080
NM_198282.4(STING1):c.571C>T (p.Arg191Trp)	rs150384595	0.00046
NM_198282.4(STING1):c.760-9C>A	rs200232916	0.00039
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.61G>A (p.Ala21Thr)	rs140011636	0.00017
NM_198282.4(STING1):c.48C>T (p.His16=)	rs201271148	0.00011
NM_198282.4(STING1):c.946+12G>A	rs371277040	0.00011
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.510G>C (p.Leu170=)	rs200049390	0.00008
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.760-4C>G	rs549790890	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.720C>T (p.Tyr240=)	rs766079687	0.00005
NM_198282.4(STING1):c.971C>T (p.Ser324Leu)	rs772018436	0.00005
NM_198282.4(STING1):c.1128G>A (p.Thr376=)	rs778204471	0.00004
NM_198282.4(STING1):c.32C>T (p.Pro11Leu)	rs146423746	0.00004
NM_198282.4(STING1):c.520+14T>A	rs200511430	0.00004
NM_198282.4(STING1):c.548A>G (p.Asn183Ser)	rs201277595	0.00004
NM_198282.4(STING1):c.600T>C (p.Ile200=)	rs916516910	0.00004
NM_198282.4(STING1):c.750C>T (p.Asn250=)	rs772357103	0.00004
NM_198282.4(STING1):c.783C>T (p.Tyr261=)	rs537146631	0.00004
NM_198282.4(STING1):c.1000C>T (p.Arg334Trp)	rs1197819878	0.00003
NM_198282.4(STING1):c.463G>A (p.Val155Met)	rs587777610	0.00003
NM_198282.4(STING1):c.495C>T (p.Ile165=)	rs746690249	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.105G>C (p.Gly35=)	rs755029181	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.726C>T (p.Asn242=)	rs371971795	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.1110G>A (p.Lys370=)	rs766506666	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.228-5C>T	rs1425370273	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.462C>T (p.Asn154=)	rs138074216	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.585C>T (p.Ser195=)	rs1038007276	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.759+14G>A	rs1189084716	0.00001
NM_198282.4(STING1):c.760-13T>C	rs1357142936	0.00001
NM_198282.4(STING1):c.763G>A (p.Gly255Ser)	rs368419459	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.879G>A (p.Arg293=)	rs1302904360	0.00001
NM_198282.4(STING1):c.885T>A (p.Leu295=)	rs768075396	0.00001
NM_198282.4(STING1):c.946+1G>T	rs375560052	0.00001
NM_198282.4(STING1):c.946+6G>T	rs768799195	0.00001
NM_198282.4(STING1):c.975G>A (p.Leu325=)	rs1393425615	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.1065C>A (p.Ser355=)
NM_198282.4(STING1):c.1068G>A (p.Thr356=)	rs112829463
NM_198282.4(STING1):c.1077A>G (p.Gln359=)
NM_198282.4(STING1):c.1083T>C (p.Pro361=)
NM_198282.4(STING1):c.1084G>A (p.Glu362Lys)
NM_198282.4(STING1):c.1124G>A (p.Arg375His)	rs117897081
NM_198282.4(STING1):c.1124G>T (p.Arg375Leu)	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.1139G>A (p.Ter380=)	rs1581447677
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.141G>C (p.Leu47=)	rs1304541029
NM_198282.4(STING1):c.170G>T (p.Gly57Val)
NM_198282.4(STING1):c.174_175delinsTT (p.Leu58_Leu59=)	rs1581454853
NM_198282.4(STING1):c.178T>C (p.Leu60=)	rs1751848779
NM_198282.4(STING1):c.211C>T (p.Arg71Cys)
NM_198282.4(STING1):c.212_213delinsAA (p.Arg71Gln)	rs1751847315
NM_198282.4(STING1):c.213C>T (p.Arg71=)
NM_198282.4(STING1):c.216C>T (p.His72=)
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+11G>T	rs2152094431
NM_198282.4(STING1):c.227+18C>A
NM_198282.4(STING1):c.227+1G>A	rs1751846731
NM_198282.4(STING1):c.227+4A>G	rs2152094440
NM_198282.4(STING1):c.227+9C>G	rs945821975
NM_198282.4(STING1):c.228-32_228-19del	rs759497611
NM_198282.4(STING1):c.228-3C>T	rs1751840868
NM_198282.4(STING1):c.233G>C (p.Arg78Pro)	rs11554775
NM_198282.4(STING1):c.30C>T (p.Ile10=)	rs766292927
NM_198282.4(STING1):c.40del (p.Arg14fs)
NM_198282.4(STING1):c.412-18A>G
NM_198282.4(STING1):c.412-7T>C
NM_198282.4(STING1):c.412-8G>A	rs2152094253
NM_198282.4(STING1):c.428A>C (p.Glu143Ala)
NM_198282.4(STING1):c.42G>A (p.Arg14=)
NM_198282.4(STING1):c.438A>G (p.Ala146=)	rs547610764
NM_198282.4(STING1):c.439G>C (p.Val147Leu)	rs587777611
NM_198282.4(STING1):c.44dup (p.His16fs)	rs1581455186
NM_198282.4(STING1):c.457T>A (p.Phe153Ile)	rs2152094234
NM_198282.4(STING1):c.461A>G (p.Asn154Ser)	rs587777609
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.520+11C>A
NM_198282.4(STING1):c.520+11CT[2]
NM_198282.4(STING1):c.520+15C>T
NM_198282.4(STING1):c.520+19C>T
NM_198282.4(STING1):c.520G>A (p.Glu174Lys)
NM_198282.4(STING1):c.521-10C>T	rs2152093643
NM_198282.4(STING1):c.524T>C (p.Leu175Pro)
NM_198282.4(STING1):c.525C>T (p.Leu175=)	rs2152093641
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.565C>T (p.Leu189=)	rs2152093625
NM_198282.4(STING1):c.568C>T (p.Leu190=)
NM_198282.4(STING1):c.570A>G (p.Leu190=)	rs1228056296
NM_198282.4(STING1):c.579A>G (p.Ala193=)
NM_198282.4(STING1):c.589C>A (p.Arg197=)	rs763892914
NM_198282.4(STING1):c.5C>T (p.Pro2Leu)
NM_198282.4(STING1):c.602T>C (p.Leu201Pro)	rs1581450494
NM_198282.4(STING1):c.60G>A (p.Lys20=)
NM_198282.4(STING1):c.614A>G (p.Asp205Gly)
NM_198282.4(STING1):c.616T>G (p.Cys206Gly)
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.65C>A (p.Ala22Asp)
NM_198282.4(STING1):c.664C>T (p.Leu222=)
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.712C>A (p.Arg238=)
NM_198282.4(STING1):c.722G>C (p.Ser241Thr)
NM_198282.4(STING1):c.735T>C (p.Tyr245=)
NM_198282.4(STING1):c.755A>G (p.Gln252Arg)
NM_198282.4(STING1):c.759+15G>T
NM_198282.4(STING1):c.759+19G>A
NM_198282.4(STING1):c.759+3A>G
NM_198282.4(STING1):c.760-16C>T	rs2152093389
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.816A>G (p.Ser272=)
NM_198282.4(STING1):c.826C>G (p.Gln276Glu)
NM_198282.4(STING1):c.831T>C (p.Ala277=)
NM_198282.4(STING1):c.842G>A (p.Arg281Gln)	rs1561482476
NM_198282.4(STING1):c.844G>A (p.Glu282Lys)
NM_198282.4(STING1):c.845A>G (p.Glu282Gly)	rs1483629542
NM_198282.4(STING1):c.846G>A (p.Glu282=)	rs1751695966
NM_198282.4(STING1):c.847G>A (p.Asp283Asn)
NM_198282.4(STING1):c.851G>A (p.Arg284Lys)
NM_198282.4(STING1):c.851G>C (p.Arg284Thr)
NM_198282.4(STING1):c.856G>A (p.Glu286Lys)
NM_198282.4(STING1):c.862G>A (p.Ala288Thr)
NM_198282.4(STING1):c.906C>T (p.Ala302=)	rs2152093345
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+12_946+27del
NM_198282.4(STING1):c.946+19G>T
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.947-19C>T	rs1450154806
NM_198282.4(STING1):c.947-20C>G
NM_198282.4(STING1):c.947-3C>T
NM_198282.4(STING1):c.947-9C>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.966C>T (p.Ser322=)
NM_198282.4(STING1):c.972G>A (p.Ser324=)
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)
NM_198282.4(STING1):c.993G>A (p.Arg331=)
NM_198282.4(STING1):c.996C>T (p.His332=)
NM_198282.4(STING1):c.99T>A (p.Leu33=)

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