ClinVar Miner

List of variants in gene IFIH1 studied for Aicardi-Goutieres syndrome 7

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) rs1990760 0.44895
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663 0.00253
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
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.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu) rs367921237 0.00002
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 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.1009A>G (p.Arg337Gly) rs587777447
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr) rs1314541924
NM_022168.4(IFIH1):c.1114C>T (p.Leu372Phe) rs587777576
NM_022168.4(IFIH1):c.1165G>A (p.Gly389Arg) rs1576227162
NM_022168.4(IFIH1):c.1178A>C (p.Asp393Ala) rs587777449
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
NM_022168.4(IFIH1):c.1331A>G (p.Glu444Gly) rs1576226728
NM_022168.4(IFIH1):c.1347C>G (p.Asn449Lys) rs753383954
NM_022168.4(IFIH1):c.1354G>A (p.Ala452Thr) rs587777575
NM_022168.4(IFIH1):c.1465G>A (p.Ala489Thr) rs1576226604
NM_022168.4(IFIH1):c.1483G>A (p.Gly495Arg) rs672601336
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter) rs774888783
NM_022168.4(IFIH1):c.1747A>G (p.Ile583Val) rs753599401
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.2156C>T (p.Ala719Val) rs1576224269
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln) rs587777445
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_022168.4(IFIH1):c.2317G>C (p.Glu773Gln) rs201472224
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.2336G>T (p.Arg779Leu) rs587777446
NM_022168.4(IFIH1):c.2342G>A (p.Gly781Glu) rs1576222845
NM_022168.4(IFIH1):c.2404A>G (p.Asn802Asp) rs1576222803
NM_022168.4(IFIH1):c.2407A>T (p.Ile803Phe) rs774958328
NM_022168.4(IFIH1):c.2415C>G (p.Ile805Met) rs1010120295
NM_022168.4(IFIH1):c.2439A>T (p.Glu813Asp) rs1559810905
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.2471G>A (p.Arg824Lys) rs1238832404
NM_022168.4(IFIH1):c.2486C>G (p.Thr829Ser) rs765887304
NM_022168.4(IFIH1):c.2544T>G (p.Asp848Glu) rs1576222015
NM_022168.4(IFIH1):c.2561T>A (p.Met854Lys) rs138373022
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.2866A>G (p.Ile956Val) rs1576219706
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
NM_022168.4(IFIH1):c.329C>G (p.Ala110Gly) rs1576243266
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.716dup (p.Met240fs) rs1558875029
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)
NM_022168.4(IFIH1):c.992C>G (p.Thr331Arg) rs1576229572
NM_022168.4(IFIH1):c.992C>T (p.Thr331Ile) rs1576229572

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