ClinVar Miner

List of variants reported as uncertain significance for STING-associated vasculopathy with onset in infancy by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (1):

STING-associated vasculopathy with onset in infancy

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_198282.4(STING1):c.575G>T (p.Gly192Val)	rs201096097	0.00019
NM_198282.4(STING1):c.233G>A (p.Arg78Gln)	rs11554775	0.00001
NM_198282.4(STING1):c.760-2_766delinsTACCT	rs2152093375

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