ClinVar Miner

List of variants in gene NUBPL studied for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.*995T>C rs10136892 0.59892
NM_025152.3(NUBPL):c.*1874A>G rs10348 0.45711
NM_025152.3(NUBPL):c.*1694G>A rs1129623 0.44285
NM_025152.3(NUBPL):c.*1685A>G rs1129622 0.44269
NM_025152.3(NUBPL):c.*312G>A rs10162516 0.22998
NM_025152.3(NUBPL):c.*1888G>A rs7148746 0.22286
NM_025152.3(NUBPL):c.*444C>T rs10162515 0.21109
NM_025152.3(NUBPL):c.*122G>C rs4981131 0.13131
NM_025152.3(NUBPL):c.*273C>T rs76188062 0.10021
NM_025152.3(NUBPL):c.*1451C>T rs28533800 0.03631
NM_025152.3(NUBPL):c.*26C>G rs76130953 0.01425
NM_025152.3(NUBPL):c.*806A>G rs139044047 0.00955
NM_025152.3(NUBPL):c.*736C>G rs111321293 0.00901
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_025152.3(NUBPL):c.162C>T (p.Ser54=) rs34570972 0.00667
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_025152.3(NUBPL):c.*301G>T rs189475622 0.00290
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_025152.3(NUBPL):c.639C>T (p.Ile213=) rs35330765 0.00187
NM_025152.3(NUBPL):c.685C>T (p.His229Tyr) rs35867418 0.00121
NM_025152.3(NUBPL):c.256+14T>C rs377077969 0.00113
NM_025152.3(NUBPL):c.*188T>C rs569141248 0.00091
NM_025152.3(NUBPL):c.413G>A (p.Gly138Asp) rs201412882 0.00071
NM_025152.3(NUBPL):c.*344T>C rs572496732 0.00067
NM_025152.3(NUBPL):c.383G>A (p.Ser128Asn) rs143612760 0.00066
NM_025152.3(NUBPL):c.*1940A>C rs149945695 0.00064
NM_025152.3(NUBPL):c.-13A>G rs754769393 0.00049
NM_025152.3(NUBPL):c.*357C>G rs576520205 0.00034
NM_025152.3(NUBPL):c.*850C>T rs370650416 0.00024
NM_025152.3(NUBPL):c.*905A>C rs750277296 0.00020
NM_025152.3(NUBPL):c.-7C>T rs201073307 0.00016
NM_025152.3(NUBPL):c.109-11A>T rs886050448 0.00012
NM_025152.3(NUBPL):c.777A>G (p.Ala259=) rs368513010 0.00012
NM_025152.3(NUBPL):c.*1048G>A rs886050455 0.00011
NM_025152.3(NUBPL):c.*1609G>A rs142179743 0.00009
NM_025152.3(NUBPL):c.285C>T (p.Asn95=) rs373232503 0.00009
NM_025152.3(NUBPL):c.*1047C>T rs913575962 0.00008
NM_025152.3(NUBPL):c.*864C>T rs996734164 0.00008
NM_025152.3(NUBPL):c.*1554A>G rs967796383 0.00007
NM_025152.3(NUBPL):c.*561G>A rs189555353 0.00007
NM_025152.3(NUBPL):c.*72T>C rs975175643 0.00007
NM_025152.3(NUBPL):c.*1840A>G rs886050471 0.00005
NM_025152.3(NUBPL):c.*355T>C rs886050452 0.00005
NM_025152.3(NUBPL):c.25C>T (p.Leu9Phe) rs751219189 0.00005
NM_025152.3(NUBPL):c.369G>A (p.Pro123=) rs755482148 0.00005
NM_025152.3(NUBPL):c.488C>T (p.Ser163Leu) rs781341998 0.00005
NM_025152.3(NUBPL):c.-25A>G rs749942385 0.00004
NM_025152.3(NUBPL):c.677G>A (p.Arg226His) rs79498789 0.00004
NM_025152.3(NUBPL):c.*1370C>T rs1031134034 0.00003
NM_025152.3(NUBPL):c.*1621C>T rs1315512923 0.00003
NM_025152.3(NUBPL):c.*2036A>C rs886050472 0.00003
NM_025152.3(NUBPL):c.422+8T>C rs868061310 0.00002
NM_025152.3(NUBPL):c.*135T>G rs377738028 0.00001
NM_025152.3(NUBPL):c.*1963C>A rs1164142579 0.00001
NM_025152.3(NUBPL):c.*527G>A rs560274677 0.00001
NM_025152.3(NUBPL):c.*638C>G rs886050454 0.00001
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr) rs567437692 0.00001
NM_025152.3(NUBPL):c.384C>T (p.Ser128=) rs886050450 0.00001
NM_025152.3(NUBPL):c.46C>T (p.Arg16Trp) rs886050447 0.00001
NM_025152.3(NUBPL):c.4G>C (p.Gly2Arg) rs765747555 0.00001
NM_025152.3(NUBPL):c.71C>T (p.Pro24Leu) rs556060060 0.00001
NM_025152.3(NUBPL):c.894T>A (p.Asp298Glu) rs770850110 0.00001
NM_025152.3(NUBPL):c.*1015C>A rs551958784
NM_025152.3(NUBPL):c.*1151G>A rs550119169
NM_025152.3(NUBPL):c.*1260T>C rs551289319
NM_025152.3(NUBPL):c.*1594T>G rs2040700976
NM_025152.3(NUBPL):c.*1619C>T rs886050468
NM_025152.3(NUBPL):c.*1655A>G rs1407466515
NM_025152.3(NUBPL):c.*1768G>A rs2040704041
NM_025152.3(NUBPL):c.*1773A>G rs886050469
NM_025152.3(NUBPL):c.*1776G>A rs886050470
NM_025152.3(NUBPL):c.*237G>T rs1566603021
NM_025152.3(NUBPL):c.*323G>T rs2040678852
NM_025152.3(NUBPL):c.*742C>G rs760265792
NM_025152.3(NUBPL):c.*817T>A rs2040686751
NM_025152.3(NUBPL):c.*836C>G rs10147479
NM_025152.3(NUBPL):c.199A>G (p.Lys67Glu) rs771326763
NM_025152.3(NUBPL):c.286G>A (p.Asp96Asn) rs886050449
NM_025152.3(NUBPL):c.287A>T (p.Asp96Val) rs2033400591
NM_025152.3(NUBPL):c.573G>A (p.Val191=) rs886050451
NM_025152.3(NUBPL):c.603A>C (p.Ile201=) rs543089711
NM_025152.3(NUBPL):c.90G>A (p.Ala30=) rs773747183

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