ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial disease by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_198076.6(COX20):c.91C>T (p.Arg31Trp) rs373824502 0.00002
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-CO1):m.6480G>A rs199476128
NC_012920.1(MT-CYB):m.15261G>C
NC_012920.1(MT-TI):m.4311G>A
NM_001098.3(ACO2):c.1534G>A (p.Asp512Asn)
NM_004046.6(ATP5F1A):c.326T>C (p.Leu109Ser)
NM_014362.4(HIBCH):c.991C>T (p.Arg331Trp)
NM_023936.2(MRPS34):c.289C>T (p.Leu97Phe)

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