ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075

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