ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 1 by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_033629.6(TREX1):c.290G>A (p.Arg97His)	rs200773268	0.00003
NM_033629.6(TREX1):c.294dup (p.Cys99fs)	rs760594164

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