ClinVar Miner

List of variants studied 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: 5
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HGVS dbSNP gnomAD frequency
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys) rs1347862457
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer) rs752052886
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476

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