ClinVar Miner

List of variants reported as likely benign for Aicardi-Goutieres syndrome 3

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.-157C>A rs535406222
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468+13G>A rs182000627
NM_032193.3(RNASEH2C):c.468+8G>A rs751767695
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590
NM_032193.4(RNASEH2C):c.*295C>T
NM_032193.4(RNASEH2C):c.*310C>T
NM_032193.4(RNASEH2C):c.393G>A (p.Leu131=)
NM_182710.3(KAT5):c.*60C>T rs186106053
NM_182710.3(KAT5):c.1424+17C>T rs4645938

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