ClinVar Miner

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

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_001111.5(ADAR):c.1125C>T (p.Thr375=) rs145166589
NM_001111.5(ADAR):c.165G>T (p.Pro55=) rs570176840
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106
NM_001111.5(ADAR):c.1890C>T (p.Cys630=) rs558496566
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561
NM_006397.2(RNASEH2A):c.36C>T (p.Gly12=) rs375139492
NM_006397.2(RNASEH2A):c.417C>T (p.Phe139=) rs201413125
NM_006397.2(RNASEH2A):c.465A>G (p.Gln155=) rs758492414
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197
NM_022168.4(IFIH1):c.1097T>A (p.Val366Glu) rs140977021
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His) rs145520044
NM_022168.4(IFIH1):c.1583T>G (p.Leu528Arg) rs142348767
NM_022168.4(IFIH1):c.1965T>A (p.Asp655Glu) rs144274375
NM_022168.4(IFIH1):c.2016_2019AGAT[1] (p.Arg674fs) rs569337014
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663
NM_022168.4(IFIH1):c.2196T>C (p.Tyr732=) rs147175706
NM_022168.4(IFIH1):c.2361C>T (p.Ile787=) rs35677292
NM_022168.4(IFIH1):c.2937G>A (p.Leu979=) rs372007025
NM_022168.4(IFIH1):c.436A>G (p.Ile146Val) rs146721166
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466
NM_033629.6(TREX1):c.484C>T (p.Leu162=) rs1553820257

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