List of variants in gene PNPT1 reported as benign for Combined oxidative phosphorylation defect type 13

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.1247+29C>T	rs782604	0.93874
NM_033109.5(PNPT1):c.867-47T>A	rs782631	0.92991
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=)	rs2627765	0.48848
NM_033109.5(PNPT1):c.1074-19A>G	rs782637	0.45197
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val)	rs782572	0.44915
NM_033109.5(PNPT1):c.*11dup	rs35916020

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