ClinVar Miner

List of variants studied for IFIH1-related type 1 interferonopathy

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00027
NM_022168.4(IFIH1):c.454-1G>T rs148590996 0.00008
NM_022168.4(IFIH1):c.2067del (p.Arg689fs)
NM_022168.4(IFIH1):c.929del (p.Pro310fs) rs1212715492

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