ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 1 by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu)	rs755919767	0.00001
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del)	rs2107255387

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