ClinVar Miner

List of variants in gene RNASEH2A reported as pathogenic for Aicardi-Goutieres syndrome 4

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_006397.3(RNASEH2A):c.160del (p.Leu54fs)
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.223G>T (p.Glu75Ter) rs753695101
NM_006397.3(RNASEH2A):c.229del (p.Glu77fs)
NM_006397.3(RNASEH2A):c.263_267dup (p.Gly90fs)
NM_006397.3(RNASEH2A):c.339_343dup (p.Ser115Ter)
NM_006397.3(RNASEH2A):c.346del (p.Leu116fs)
NM_006397.3(RNASEH2A):c.447C>A (p.Tyr149Ter)
NM_006397.3(RNASEH2A):c.471dup (p.Pro158fs)
NM_006397.3(RNASEH2A):c.543_544del (p.Ala182fs)
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.589del (p.Glu197fs) rs781284373
NM_006397.3(RNASEH2A):c.635A>T (p.Asn212Ile) rs377244188
NM_006397.3(RNASEH2A):c.657G>A (p.Trp219Ter) rs2145830181
NM_006397.3(RNASEH2A):c.859T>C (p.Tyr287His)

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