ClinVar Miner

List of variants in gene SNORD118, TMEM107 studied for leukoencephalopathy with calcifications and cysts

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 46
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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_183065.4(TMEM107):c.*608_*636dup rs1555525654
NM_183065.4(TMEM107):c.*609G>A rs200531412
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.*674G>T
NM_183065.4(TMEM107):c.*686A>C
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.*733G>T rs186890613
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.*755C>T rs75008470
NM_183065.4(TMEM107):c.*760G>T rs116395281

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