ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 21 by Revvity Omics, Revvity

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00343
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro) rs201430951 0.00005
NM_025152.3(NUBPL):c.201A>G (p.Lys67=) rs774987214 0.00003
NM_025152.3(NUBPL):c.308T>A (p.Leu103Ter) rs1168933295 0.00001
NM_025152.3(NUBPL):c.386A>G (p.Asn129Ser) rs2502533301
NM_025152.3(NUBPL):c.514-19835C>A rs1012043214

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