List of variants reported as pathogenic for Combined oxidative phosphorylation defect type 13

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)	rs143712760	0.00026
NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro)	rs879255657	0.00001
NM_033109.5(PNPT1):c.1160A>G (p.Gln387Arg)	rs397514598
NM_033109.5(PNPT1):c.1399C>T (p.Pro467Ser)	rs1696380450
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val)	rs767310806
NM_033109.5(PNPT1):c.1495G>C (p.Gly499Arg)	rs1559094461
NM_033109.5(PNPT1):c.1579_1580insGAT (p.Tyr527Ter)	rs2104038061
NM_033109.5(PNPT1):c.1818T>G (p.Val606=)	rs1049082567
NM_033109.5(PNPT1):c.208T>C (p.Ser70Pro)	rs1559114055
NM_033109.5(PNPT1):c.2137G>T (p.Asp713Tyr)	rs752550279
NM_033109.5(PNPT1):c.404-1G>A	rs863225449
NM_033109.5(PNPT1):c.406C>T (p.Arg136Cys)
NM_033109.5(PNPT1):c.407G>A (p.Arg136His)	rs746356243
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys)	rs778100619

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