ClinVar Miner

List of variants in gene NUBPL studied for Mitochondrial complex 1 deficiency, nuclear type 21

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.514-32A>G rs7159193 0.13387
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_025152.3(NUBPL):c.166G>A (p.Gly56Arg) rs200401432 0.00017
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00006
NM_025152.3(NUBPL):c.313G>T (p.Asp105Tyr) rs397515440 0.00003
NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser) rs554414788 0.00002
NM_025152.3(NUBPL):c.2T>C (p.Met1Thr) rs567437692 0.00001
NM_025152.3(NUBPL):c.351G>A (p.Met117Ile) rs1273822033 0.00001
NM_025152.3(NUBPL):c.693+1G>A rs751631278 0.00001
NM_025152.3(NUBPL):c.726C>G (p.Phe242Leu) rs767543623 0.00001
NC_000014.8:g.(32142781_32256985)_(32257080_32295834)del
NM_025152.2(NUBPL):c.[166G>A;815-27T>C]
NM_025152.3(NUBPL):c.201A>G (p.Lys67=)
NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr) rs1595283708
NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter)
NM_025152.3(NUBPL):c.383-5dup rs35659584
NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser)
NM_025152.3(NUBPL):c.423-1G>A rs863224123
NM_025152.3(NUBPL):c.468G>T (p.Trp156Cys)
NM_025152.3(NUBPL):c.514-19835C>A
NM_025152.3(NUBPL):c.526C>T (p.Gln176Ter) rs1555338209
NM_025152.3(NUBPL):c.579A>C (p.Leu193Phe) rs552722349
NM_025152.3(NUBPL):c.591_595del (p.Gln197fs) rs1313083001
NM_025152.3(NUBPL):c.667_668insCCTTGTGCTG (p.Glu223delinsAlaLeuCysTer) rs879255565
NM_025152.3(NUBPL):c.893A>C (p.Asp298Ala)

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