ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome 7

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Total variants: 23
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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.2299del (p.Thr767fs) rs759430873 0.00006
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter) rs747926684 0.00005
NM_022168.4(IFIH1):c.1157G>A (p.Arg386His) rs138611889 0.00004
NM_022168.4(IFIH1):c.298A>G (p.Thr100Ala) rs375449284 0.00004
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu) rs367921237 0.00002
NM_022168.4(IFIH1):c.109T>C (p.Phe37Leu) rs888356659 0.00001
NM_022168.4(IFIH1):c.2321T>A (p.Val774Asp) rs1246892209 0.00001
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn) rs1442046271 0.00001
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr) rs1314541924
NM_022168.4(IFIH1):c.2026C>G (p.Leu676Val) rs1682712829
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2415C>G (p.Ile805Met) rs1010120295
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.2635C>T (p.Gln879Ter) rs1559809132
NM_022168.4(IFIH1):c.2759T>C (p.Ile920Thr) rs748895438
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
NM_022168.4(IFIH1):c.32T>C (p.Phe11Ser) rs1355798943
NM_022168.4(IFIH1):c.373C>G (p.Leu125Val) rs139219083
NM_022168.4(IFIH1):c.52_262delinsCCTCTG (p.Phe18fs) rs2105238244
NM_022168.4(IFIH1):c.742T>C (p.Ser248Pro) rs1392840230
NM_022168.4(IFIH1):c.875-1G>C rs1682933667
NM_022168.4(IFIH1):c.960G>C (p.Leu320Phe)

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