ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome by Baylor Genetics

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NR_023317.1(RNU7-1):n.28C>T rs180837208

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