ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome 4 by GeneReviews

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Total variants: 11
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HGVS dbSNP
NM_006397.2(RNASEH2A):c.109G>A (p.Gly37Ser) rs76857106
NM_006397.2(RNASEH2A):c.207_208insG (p.Thr70Aspfs) rs77672568
NM_006397.2(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971
NM_006397.2(RNASEH2A):c.690C>A (p.Phe230Leu) rs79767407
NM_006397.2(RNASEH2A):c.69G>A (p.Val23=) rs397515480
NM_006397.2(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910
NM_006397.2(RNASEH2A):c.716_717dupGC (p.Thr240Alafs) rs78705193
NM_006397.2(RNASEH2A):c.719C>T (p.Thr240Met) rs79843600
NM_006397.2(RNASEH2A):c.75C>T (p.Arg25=) rs397515479
NM_006397.2(RNASEH2A):c.872G>A (p.Arg291His) rs75037667

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