ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 3

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Total variants: 15
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HGVS dbSNP
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.115G>T (p.Asp39Tyr) rs773527127
NM_032193.3(RNASEH2C):c.169G>A (p.Glu57Lys)
NM_032193.3(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.3(RNASEH2C):c.260A>G (p.Glu87Gly) rs939276490
NM_032193.3(RNASEH2C):c.268_269delinsGT (p.Lys90Val) rs1565213438
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.428A>T (p.Lys143Ile) rs75146158
NM_032193.3(RNASEH2C):c.434G>C (p.Arg145Pro) rs774773395
NM_032193.3(RNASEH2C):c.434G>T (p.Arg145Leu)
NM_032193.3(RNASEH2C):c.468+13G>A rs182000627
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590
NM_032193.3(RNASEH2C):c.472C>G (p.His158Asp)
NM_032193.3(RNASEH2C):c.56C>G (p.Ala19Gly) rs773830258

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