ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 4 by Invitae

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Total variants: 24
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HGVS dbSNP
NM_006397.2(RNASEH2A):c.179T>C (p.Leu60Pro)
NM_006397.2(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.2(RNASEH2A):c.222C>T (p.Ser74=) rs891089016
NM_006397.2(RNASEH2A):c.275C>T (p.Ala92Val)
NM_006397.2(RNASEH2A):c.29A>G (p.Asn10Ser) rs1555734300
NM_006397.2(RNASEH2A):c.324-6C>A
NM_006397.2(RNASEH2A):c.36C>T (p.Gly12=) rs375139492
NM_006397.2(RNASEH2A):c.374T>C (p.Ile125Thr)
NM_006397.2(RNASEH2A):c.412-6T>G rs192358167
NM_006397.2(RNASEH2A):c.417C>T (p.Phe139=) rs201413125
NM_006397.2(RNASEH2A):c.439G>C (p.Glu147Gln)
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
NM_006397.2(RNASEH2A):c.465A>G (p.Gln155=) rs758492414
NM_006397.2(RNASEH2A):c.566C>A (p.Ala189Asp)
NM_006397.2(RNASEH2A):c.568G>A (p.Val190Met) rs370225385
NM_006397.2(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284
NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782
NM_006397.2(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.703C>T (p.Arg235Trp)
NM_006397.2(RNASEH2A):c.715C>T (p.Arg239Cys)
NM_006397.2(RNASEH2A):c.74G>T (p.Arg25Leu)
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_006397.2(RNASEH2A):c.79G>C (p.Glu27Gln)
NM_006397.2(RNASEH2A):c.83C>A (p.Pro28His) rs1568386452

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