ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 2 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.818A>T (p.Glu273Val)

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