ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome 7 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986 0.00011
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter) rs774888783
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029

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