ClinVar Miner

List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome 6 by Genomics England Pilot Project, Genomics England

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001111.5(ADAR):c.2763-2A>G	rs2101579172
NM_001111.5(ADAR):c.3254_3255del (p.Thr1085fs)	rs2101563488
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter)	rs2101642015

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