ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val) rs1303667371
NM_015474.4(SAMHD1):c.625+1G>A rs1601141002
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483

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