ClinVar Miner

List of variants in gene IFIH1 reported as pathogenic for Aicardi-Goutieres syndrome

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_022168.4(IFIH1):c.1009A>G (p.Arg337Gly) rs587777447
NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe) rs587777576
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1354G>A (p.Ala452Thr) rs587777575
NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg) rs672601336
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter)
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022168.4(IFIH1):c.2335C>T (p.Arg779Cys) rs587777448
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022168.4(IFIH1):c.2439A>T (p.Glu813Asp) rs1559810905
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533

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