ClinVar Miner

List of variants reported as likely pathogenic for Mitochondrial DNA depletion syndrome 13 by Genomics England Pilot Project, Genomics England

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)	rs758395213	0.00003
NM_001278716.2(FBXL4):c.1750del (p.Cys584fs)	rs2128374874

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