ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Baylor Genetics

Included ClinVar conditions (20):
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Total variants: 28
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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_032193.4(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258 0.00006
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met) rs367899281 0.00005
NM_006397.3(RNASEH2A):c.439G>A (p.Glu147Lys) rs769486587 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
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_022168.4(IFIH1):c.109T>C (p.Phe37Leu) rs888356659 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NM_001111.5(ADAR):c.2560A>T (p.Thr854Ser) rs1697011861
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.578C>T (p.Pro193Leu) rs1697917766
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_015474.4(SAMHD1):c.997C>T (p.Arg333Cys) rs770005027
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr) rs1314541924
NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val) rs1682712829
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter) rs1559809132
NM_032193.4(RNASEH2C):c.154A>G (p.Ile52Val) rs1857359607
NM_032193.4(RNASEH2C):c.202C>G (p.Leu68Val) rs1427683229
NM_032193.4(RNASEH2C):c.495A>C (p.Ter165Cys) rs749473518
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.317A>G (p.Asn106Ser) rs2040342178
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_130384.3(ATRIP):c.*1024C>T rs2040311705
NR_023317.1(RNU7-1):n.23T>G
NR_023317.1(RNU7-1):n.28C>T rs180837208

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