ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 4 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181

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