ClinVar Miner

List of variants reported as pathogenic by Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NM_183065.4(TMEM107):c.*638C>T rs368022715 0.00032
NM_183065.4(TMEM107):c.*678G>A rs372252345 0.00025
NM_183065.4(TMEM107):c.*686A>G rs201558321 0.00006
NM_183065.4(TMEM107):c.*671G>A rs886039784 0.00004
NM_183065.4(TMEM107):c.*688G>A rs372721948 0.00004
NM_183065.4(TMEM107):c.*674_*675insT rs757706428 0.00003
NM_183065.4(TMEM107):c.*689A>G rs1400162090 0.00002
NM_183065.4(TMEM107):c.*670dup rs775673578 0.00001
NM_183065.4(TMEM107):c.*675A>G rs750457525 0.00001
NM_001139.3(ALOX12B):c.1275+30_1275+35del rs1977098048
NM_001139.3(ALOX12B):c.1275+77_1275+105dup rs1977096738
NM_001139.3(ALOX12B):c.1275+78G>A rs1167153704
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.1331A>G (p.Glu444Gly) rs1576226728
NM_022168.4(IFIH1):c.1347C>G (p.Asn449Lys) rs753383954
NM_022168.4(IFIH1):c.1465G>A (p.Ala489Thr) rs1576226604
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.2317G>C (p.Glu773Gln) rs201472224
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.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
NM_183065.4(TMEM107):c.*545_*826del rs1983743862
NM_183065.4(TMEM107):c.*616T>C rs368446612
NM_183065.4(TMEM107):c.*617C>A rs117735243
NM_183065.4(TMEM107):c.*617C>T rs117735243
NM_183065.4(TMEM107):c.*622G>A rs201266955
NM_183065.4(TMEM107):c.*622G>C rs201266955
NM_183065.4(TMEM107):c.*634C>T rs545394298
NM_183065.4(TMEM107):c.*653G>C rs200458465
NM_183065.4(TMEM107):c.*653G>T rs200458465
NM_183065.4(TMEM107):c.*656G>A rs148909909
NM_183065.4(TMEM107):c.*671G>T rs886039784
NM_183065.4(TMEM107):c.*672A>G rs755495846
NM_183065.4(TMEM107):c.*672dup rs1983820983
NM_183065.4(TMEM107):c.*673T>G rs752108301
NM_183065.4(TMEM107):c.*674G>C rs780396107
NM_183065.4(TMEM107):c.*687T>G rs754874209
NM_183065.4(TMEM107):c.*689A>C rs1400162090
NM_183065.4(TMEM107):c.*695G>A rs772667974
NM_183065.4(TMEM107):c.*695G>C rs772667974
NM_183065.4(TMEM107):c.*696A>G rs779456932
NM_183065.4(TMEM107):c.*714T>G rs757122064
NM_183065.4(TMEM107):c.*717G>A rs562912181
NM_183065.4(TMEM107):c.*718G>A rs201686383
NM_183065.4(TMEM107):c.*740C>T rs144429028
NM_183065.4(TMEM107):c.*741C>G rs374135155
NM_183065.4(TMEM107):c.*744T>C rs754582308
NM_183065.4(TMEM107):c.*745C>A rs746503581
NM_183065.4(TMEM107):c.*745C>G rs746503581
NM_183065.4(TMEM107):c.*751C>T rs117595965
NM_183065.4(TMEM107):c.*755C>G rs75008470
NM_183065.4(TMEM107):c.*760G>T rs116395281

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