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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)	rs782190413	0.00004
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)	rs121918657	0.00001
NC_012920.1(MT-ATP6):m.8993T>G	rs199476133
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NC_012920.1(MT-TS1):m.7471dup	rs111033319
NM_017775.4(TTC19):c.451C>T (p.Gln151Ter)

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