ClinVar Miner

List of variants reported as likely pathogenic for Combined oxidative phosphorylation defect type 13 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg)	rs374698153	0.00008
NM_033109.5(PNPT1):c.1361C>G (p.Ala454Gly)	rs200088200	0.00001

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