ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (20):
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ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00004
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
NC_000020.10:g.(35575208_35579838)_(35580247_?)del
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
NM_024570.4(RNASEH2B):c.331C>T (p.Gln111Ter) rs2137952274
NM_024570.4(RNASEH2B):c.737C>A (p.Ser246Ter)
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303

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