ClinVar Miner

List of variants reported as likely pathogenic for autoinflammatory syndrome of childhood by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer) rs752052886
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476

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