ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NC_000002.11:g.(?_163144625)_(163144885_?)del
NM_022168.4(IFIH1):c.1063G>A (p.Glu355Lys)
NM_022168.4(IFIH1):c.1095+1G>T rs140125523
NM_022168.4(IFIH1):c.1142T>C (p.Leu381Ser)
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322
NM_022168.4(IFIH1):c.1312T>C (p.Ser438Pro) rs139714761
NM_022168.4(IFIH1):c.1475G>A (p.Gly492Asp)
NM_022168.4(IFIH1):c.1524+2T>G
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493
NM_022168.4(IFIH1):c.1704del (p.Pro569fs) rs1558866398
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986
NM_022168.4(IFIH1):c.1806A>T (p.Glu602Asp)
NM_022168.4(IFIH1):c.1860A>G (p.Ile620Met)
NM_022168.4(IFIH1):c.1865C>T (p.Ala622Val)
NM_022168.4(IFIH1):c.1886T>C (p.Phe629Ser) rs200980825
NM_022168.4(IFIH1):c.1948G>A (p.Asp650Asn)
NM_022168.4(IFIH1):c.1996C>T (p.Pro666Ser)
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs)
NM_022168.4(IFIH1):c.2044+2T>C rs201026962
NM_022168.4(IFIH1):c.2045-1G>A
NM_022168.4(IFIH1):c.2122A>G (p.Ile708Val) rs370796923
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln) rs367851471
NM_022168.4(IFIH1):c.2456C>A (p.Ala819Asp)
NM_022168.4(IFIH1):c.2459G>A (p.Arg820His) rs74162087
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro)
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540
NM_022168.4(IFIH1):c.2548C>T (p.Arg850Ter)
NM_022168.4(IFIH1):c.2597C>T (p.Pro866Leu) rs200833729
NM_022168.4(IFIH1):c.2616+6G>T
NM_022168.4(IFIH1):c.2657T>C (p.Met886Thr)
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829
NM_022168.4(IFIH1):c.2780A>G (p.His927Arg)
NM_022168.4(IFIH1):c.2788A>C (p.Asn930His)
NM_022168.4(IFIH1):c.2793G>A (p.Met931Ile)
NM_022168.4(IFIH1):c.2831A>T (p.Asn944Ile)
NM_022168.4(IFIH1):c.283A>G (p.Met95Val)
NM_022168.4(IFIH1):c.2857G>A (p.Asp953Asn)
NM_022168.4(IFIH1):c.2872G>A (p.Gly958Ser)
NM_022168.4(IFIH1):c.2893G>A (p.Gly965Ser)
NM_022168.4(IFIH1):c.2920C>T (p.His974Tyr) rs748198655
NM_022168.4(IFIH1):c.2962G>A (p.Val988Ile)
NM_022168.4(IFIH1):c.2998T>C (p.Tyr1000His)
NM_022168.4(IFIH1):c.301G>C (p.Asp101His)
NM_022168.4(IFIH1):c.317C>T (p.Ser106Leu)
NM_022168.4(IFIH1):c.418G>A (p.Glu140Lys) rs766508793
NM_022168.4(IFIH1):c.428T>C (p.Leu143Pro)
NM_022168.4(IFIH1):c.445A>G (p.Arg149Gly) rs74162074
NM_022168.4(IFIH1):c.454-1G>T rs148590996
NM_022168.4(IFIH1):c.457G>T (p.Ala153Ser) rs781431529
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075
NM_022168.4(IFIH1):c.580G>C (p.Val194Leu) rs1553461143
NM_022168.4(IFIH1):c.584A>G (p.Gln195Arg) rs1558876231
NM_022168.4(IFIH1):c.688C>T (p.Gln230Ter)
NM_022168.4(IFIH1):c.760G>A (p.Val254Ile) rs1256109895
NM_022168.4(IFIH1):c.949C>T (p.Gln317Ter)
NM_022168.4(IFIH1):c.996G>T (p.Gly332=)

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