ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):

Aicardi-Goutieres syndrome 3

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp)	rs78635798
NM_032193.4(RNASEH2C):c.428A>T (p.Lys143Ile)	rs75146158
NM_032193.4(RNASEH2C):c.451C>T (p.Pro151Ser)	rs78464826

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