ClinVar Miner

List of variants reported as likely benign for STING-associated vasculopathy with onset in infancy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
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.340G>A (p.Gly114Ser) rs189211438 0.00017
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.760-4C>G rs549790890 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.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.339C>T (p.Val113=) rs749076471 0.00003
NM_198282.4(STING1):c.495C>T (p.Ile165=) rs746690249 0.00003
NM_198282.4(STING1):c.105G>C (p.Gly35=) rs755029181 0.00002
NM_198282.4(STING1):c.380C>T (p.Ser127Leu) rs149528532 0.00002
NM_198282.4(STING1):c.726C>T (p.Asn242=) rs371971795 0.00002
NM_198282.4(STING1):c.1110G>A (p.Lys370=) rs766506666 0.00001
NM_198282.4(STING1):c.228-5C>T rs1425370273 0.00001
NM_198282.4(STING1):c.288G>A (p.Gly96=) rs143115208 0.00001
NM_198282.4(STING1):c.345G>A (p.Pro115=) rs780783675 0.00001
NM_198282.4(STING1):c.381G>A (p.Ser127=) rs757686770 0.00001
NM_198282.4(STING1):c.40A>C (p.Arg14=) rs761439213 0.00001
NM_198282.4(STING1):c.462C>T (p.Asn154=) rs138074216 0.00001
NM_198282.4(STING1):c.585C>T (p.Ser195=) rs1038007276 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.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+6G>T rs768799195 0.00001
NM_198282.4(STING1):c.975G>A (p.Leu325=) rs1393425615 0.00001
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.1124G>T (p.Arg375Leu) rs117897081
NM_198282.4(STING1):c.1139G>A (p.Ter380=) rs1581447677
NM_198282.4(STING1):c.141G>C (p.Leu47=) rs1304541029
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.213C>T (p.Arg71=)
NM_198282.4(STING1):c.216C>T (p.His72=)
NM_198282.4(STING1):c.227+11G>T rs2152094431
NM_198282.4(STING1):c.227+18C>A
NM_198282.4(STING1):c.227+9C>G rs945821975
NM_198282.4(STING1):c.228-32_228-19del rs759497611
NM_198282.4(STING1):c.276C>A (p.Pro92=)
NM_198282.4(STING1):c.300G>A (p.Leu100=)
NM_198282.4(STING1):c.30C>T (p.Ile10=) rs766292927
NM_198282.4(STING1):c.324C>T (p.Ser108=)
NM_198282.4(STING1):c.330A>T (p.Pro110=)
NM_198282.4(STING1):c.345G>T (p.Pro115=)
NM_198282.4(STING1):c.366C>T (p.Ala122=) rs1426349581
NM_198282.4(STING1):c.381G>T (p.Ser127=) rs757686770
NM_198282.4(STING1):c.400C>T (p.Leu134=)
NM_198282.4(STING1):c.411+10A>G rs1352670441
NM_198282.4(STING1):c.411+10_411+11del
NM_198282.4(STING1):c.411+10del
NM_198282.4(STING1):c.411+12G>A
NM_198282.4(STING1):c.411+12G>C rs764655300
NM_198282.4(STING1):c.411+12G>T
NM_198282.4(STING1):c.411+17G>T
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.438A>G (p.Ala146=) rs547610764
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.521-10C>T rs2152093643
NM_198282.4(STING1):c.525C>T (p.Leu175=) rs2152093641
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.60G>A (p.Lys20=)
NM_198282.4(STING1):c.664C>T (p.Leu222=)
NM_198282.4(STING1):c.712C>A (p.Arg238=)
NM_198282.4(STING1):c.735T>C (p.Tyr245=)
NM_198282.4(STING1):c.759+15G>T
NM_198282.4(STING1):c.759+19G>A
NM_198282.4(STING1):c.760-16C>T rs2152093389
NM_198282.4(STING1):c.816A>G (p.Ser272=)
NM_198282.4(STING1):c.831T>C (p.Ala277=)
NM_198282.4(STING1):c.846G>A (p.Glu282=) rs1751695966
NM_198282.4(STING1):c.906C>T (p.Ala302=) rs2152093345
NM_198282.4(STING1):c.946+12_946+27del
NM_198282.4(STING1):c.946+19G>T
NM_198282.4(STING1):c.947-19C>T rs1450154806
NM_198282.4(STING1):c.947-20C>G
NM_198282.4(STING1):c.947-9C>T
NM_198282.4(STING1):c.966C>T (p.Ser322=)
NM_198282.4(STING1):c.972G>A (p.Ser324=)
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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