ClinVar Miner

List of variants studied for autoinflammatory syndrome of childhood by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006929.5(SKIC2):c.3187C>T (p.Arg1063Ter) rs138923214 0.00013
NM_014639.4(SKIC3):c.3625C>T (p.Arg1209Ter) rs140800288 0.00006
NM_001111.5(ADAR):c.2531T>G (p.Ile844Arg)
NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys)
NM_014639.4(SKIC3):c.154G>T (p.Glu52Ter)
NM_014639.4(SKIC3):c.3426dup (p.Ala1143fs) rs771031428
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164

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