ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 1 by Illumina Laboratory Services, Illumina

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_005138.3(SCO2):c.-78G>C rs131806 0.51847
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_005138.3(SCO2):c.-18G>A rs74479613 0.09346
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_001953.5(TYMP):c.204C>T (p.Gly68=) rs34375653 0.01755
NM_001953.5(TYMP):c.214+13G>A rs74624637 0.00960
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) rs762630777 0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) rs778306525 0.00036
NM_005138.3(SCO2):c.237G>A (p.Arg79=) rs150485659 0.00036
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_001953.5(TYMP):c.*10G>A rs369012029 0.00011
NM_001953.5(TYMP):c.*3C>T rs372620403 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_001953.5(TYMP):c.859G>A (p.Val287Met) rs781064742 0.00009
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) rs764142194 0.00008
NM_001953.5(TYMP):c.-84T>C rs560027665 0.00007
NM_001953.5(TYMP):c.517-15G>A rs372690172 0.00007
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly) rs146922557 0.00006
NM_001953.5(TYMP):c.646+8G>A rs200818286 0.00006
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_001953.5(TYMP):c.516+10G>A rs552829713 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_001953.5(TYMP):c.-92C>T rs886057636 0.00003
NM_001953.5(TYMP):c.1147G>A (p.Ala383Thr) rs771700483 0.00002
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser) rs760529157 0.00001
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr) rs145056860 0.00001
NM_001953.5(TYMP):c.929-1G>A rs1180285291 0.00001
NM_001953.5(TYMP):c.930G>A (p.Gly310=) rs773100466 0.00001
NM_001257988.1(TYMP):c.-185C>G rs886057637
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.-20C>T rs1040337014
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_001953.5(TYMP):c.1367A>G (p.Gln456Arg) rs2069332918
NM_001953.5(TYMP):c.1402G>T (p.Ala468Ser) rs768582480
NM_001953.5(TYMP):c.214+6_214+7del rs753466981
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg) rs377572658
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg) rs775841111
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg) rs769568725
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala) rs781163498
NM_001953.5(TYMP):c.516+14C>T rs780757016
NM_001953.5(TYMP):c.516+4C>T rs369574115
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg) rs367723039
NM_001953.5(TYMP):c.647-8C>T rs753922795
NM_001953.5(TYMP):c.756A>C (p.Ala252=) rs886057635
NM_001953.5(TYMP):c.766-10C>T rs886057634
NM_001953.5(TYMP):c.952G>C (p.Gly318Arg) rs1412132331
NM_005138.3(SCO2):c.-135_-132dup rs143413019
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523

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