List of variants reported as pathogenic for Multiple mitochondrial dysfunctions syndrome 6 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004279.3(PMPCB):c.524G>A (p.Arg175His)	rs200188353	0.00005
NM_004279.3(PMPCB):c.601G>C (p.Ala201Pro)	rs146343535	0.00005
NM_004279.3(PMPCB):c.523C>T (p.Arg175Cys)	rs145596167	0.00004
NM_004279.3(PMPCB):c.1265T>C (p.Ile422Thr)	rs1461200360	0.00001
NM_004279.3(PMPCB):c.530T>G (p.Val177Gly)	rs1436866272

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