ClinVar Miner

List of variants in gene IFIH1 reported as pathogenic for Aicardi-Goutieres syndrome 7

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
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.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.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.1738C>T (p.Gln580Ter) rs774888783
NM_022168.4(IFIH1):c.1747A>G (p.Ile583Val) rs753599401
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.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.2439A>T (p.Glu813Asp) rs1559810905
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.2866A>G (p.Ile956Val) rs1576219706
NM_022168.4(IFIH1):c.992C>G (p.Thr331Arg) rs1576229572
NM_022168.4(IFIH1):c.992C>T (p.Thr331Ile) rs1576229572

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