ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 19
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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.376C>A (p.Leu126Ile) rs142609349 0.00363
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.348C>G (p.Pro116=) rs138994450 0.00092
NM_198282.4(STING1):c.33G>A (p.Pro11=) rs149842998 0.00080
NM_198282.4(STING1):c.411+14G>A rs201976218 0.00039
NM_198282.4(STING1):c.510G>C (p.Leu170=) rs200049390 0.00008
NM_198282.4(STING1):c.520+14T>A rs200511430 0.00004
NM_198282.4(STING1):c.1124G>T (p.Arg375Leu) rs117897081
NM_198282.4(STING1):c.276C>T (p.Pro92=)
NM_198282.4(STING1):c.411+15del

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